KRAS
KRAS proto-oncogene, GTPase, the group of RAS type GTPase family
Basic information
Region (hg38): 12:25205246-25250936
Previous symbols: [ "KRAS2" ]
Links
Phenotypes
GenCC
Source:
- Noonan syndrome 3 (Definitive), mode of inheritance: AD
- cardiofaciocutaneous syndrome 2 (Definitive), mode of inheritance: AD
- cardiofaciocutaneous syndrome 1 (Definitive), mode of inheritance: AD
- Noonan syndrome 3 (Definitive), mode of inheritance: AD
- cardiofaciocutaneous syndrome 2 (Moderate), mode of inheritance: AD
- Noonan syndrome 3 (Definitive), mode of inheritance: AD
- Noonan syndrome 3 (Strong), mode of inheritance: AD
- cardiofaciocutaneous syndrome 2 (Strong), mode of inheritance: AD
- Noonan syndrome (Supportive), mode of inheritance: AD
- cardiofaciocutaneous syndrome (Supportive), mode of inheritance: AD
- cardiofaciocutaneous syndrome 2 (Strong), mode of inheritance: AD
- Noonan syndrome 3 (Strong), mode of inheritance: AD
- linear nevus sebaceous syndrome (Strong), mode of inheritance: AD
- cardiofaciocutaneous syndrome (Strong), mode of inheritance: AD
- Noonan syndrome (Definitive), mode of inheritance: AD
- Costello syndrome (Disputed Evidence), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Noonan syndrome; Cardiofaciocutaneous syndrome 2 | AD | Cardiovascular; Hematologic; Oncologic | Surveillance and treatment related to manifestations such as cardiac anomalies (which can include hypertrophic cardiomyopathy and arrhythmias) and short stature can be beneficial; An individual has been reported with a hematologic malignancy, and surveillance may be beneficial; Precautions related to bleeding risk can be beneficial | Cardiovascular; Craniofacial; Dermatologic; Hematologic; Musculoskeletal; Neurologic; Oncologic | 16474405; 16474404; 16474405; 17468812; 17056636; 18456719; 18042262; 19396835; 20301303; 20301365; 20358587; 20602484; 20876176; 21797849; 22211815; 22777296; 22510777; 23885229 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (21 variants)
- RASopathy (12 variants)
- Noonan syndrome 3 (11 variants)
- Neoplasm of the large intestine (7 variants)
- Noonan syndrome (6 variants)
- Non-small cell lung carcinoma (6 variants)
- Thyroid tumor (6 variants)
- Cardiofaciocutaneous syndrome 2 (5 variants)
- Inborn genetic diseases (3 variants)
- Cardio-facio-cutaneous syndrome;Noonan syndrome (3 variants)
- not specified (2 variants)
- Multiple myeloma (2 variants)
- Noonan syndrome 1 (2 variants)
- Encephalocraniocutaneous lipomatosis (2 variants)
- Juvenile myelomonocytic leukemia (2 variants)
- Neoplasm of ovary (2 variants)
- Carcinoma of pancreas (1 variants)
- Cardiofaciocutaneous syndrome 2;Noonan syndrome 3 (1 variants)
- OCULOECTODERMAL SYNDROME, SOMATIC (1 variants)
- Hepatocellular carcinoma (1 variants)
- Angiosarcoma (1 variants)
- Nevus sebaceous (1 variants)
- Endometrial carcinoma (1 variants)
- Cerebral arteriovenous malformation (1 variants)
- Linear nevus sebaceous syndrome (1 variants)
- Hereditary diffuse gastric adenocarcinoma (1 variants)
- Capillary Telangiectasia, Brain (1 variants)
- 11 conditions (1 variants)
- Gastric cancer (1 variants)
- Cardio-facio-cutaneous syndrome (1 variants)
- Medullary thyroid carcinoma (1 variants)
- Cardiovascular phenotype (1 variants)
- Carcinoma of esophagus (1 variants)
- Noonan syndrome and Noonan-related syndrome (1 variants)
- Pilocytic astrocytoma (1 variants)
- Vascular malformation (1 variants)
- Gastric adenocarcinoma (1 variants)
- KRAS-related disorder (1 variants)
- Noonan syndrome;Cardio-facio-cutaneous syndrome (1 variants)
- 12 conditions (1 variants)
- Chronic myelogenous leukemia, BCR-ABL1 positive (1 variants)
- Lung sarcomatoid carcinoma (1 variants)
- Acute myeloid leukemia (1 variants)
- Malignant melanoma of skin (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRAS gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 40 | 46 | ||||
| missense | 26 | 38 | 68 | 134 | ||
| nonsense | 3 | |||||
| start loss | 0 | |||||
| frameshift | 2 | |||||
| inframe indel | 11 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 4 | 3 | 7 | |||
| non coding | 39 | 76 | 25 | 140 | ||
| Total | 29 | 45 | 114 | 120 | 28 |
Highest pathogenic variant AF is 0.00000657
Variants in KRAS
This is a list of pathogenic ClinVar variants found in the KRAS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-25205273-C-T | Noonan syndrome | Uncertain significance (Jun 14, 2016) | ||
| 12-25205297-A-G | Noonan syndrome | Conflicting classifications of pathogenicity (May 01, 2022) | ||
| 12-25205312-C-T | Noonan syndrome | Uncertain significance (Jun 14, 2016) | ||
| 12-25205367-C-G | Noonan syndrome | Conflicting classifications of pathogenicity (Jun 01, 2023) | ||
| 12-25205484-T-C | Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25205488-C-CAA | Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25205716-A-T | Noonan syndrome • Noonan syndrome and Noonan-related syndrome | Benign/Likely benign (Dec 23, 2020) | ||
| 12-25205721-C-T | Noonan syndrome | Uncertain significance (Jun 14, 2016) | ||
| 12-25205728-CT-C | Cardio-facio-cutaneous syndrome • Noonan syndrome | Conflicting classifications of pathogenicity (Aug 01, 2022) | ||
| 12-25205728-CTT-C | Cardio-facio-cutaneous syndrome • Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25205736-T-C | Likely benign (Dec 01, 2022) | |||
| 12-25205880-T-C | Noonan syndrome | Conflicting classifications of pathogenicity (Oct 01, 2022) | ||
| 12-25205894-T-G | Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25206009-T-C | Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25206035-T-G | Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25206037-CAGAT-C | Cardio-facio-cutaneous syndrome • Noonan syndrome | Uncertain significance (Jun 14, 2016) | ||
| 12-25206111-G-GA | Cardio-facio-cutaneous syndrome • Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25206111-G-GAA | Cardio-facio-cutaneous syndrome • Noonan syndrome | Uncertain significance (Jun 14, 2016) | ||
| 12-25206150-T-C | Noonan syndrome | Conflicting classifications of pathogenicity (May 01, 2023) | ||
| 12-25206244-G-C | Noonan syndrome | Conflicting classifications of pathogenicity (Jul 01, 2022) | ||
| 12-25206293-A-T | Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25206296-G-A | Noonan syndrome | Uncertain significance (Jun 14, 2016) | ||
| 12-25206341-A-G | Noonan syndrome | Uncertain significance (Jun 14, 2016) | ||
| 12-25206394-A-T | Noonan syndrome | Likely benign (Jun 14, 2016) | ||
| 12-25206418-G-A | Noonan syndrome | Likely benign (Jun 14, 2016) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KRAS | protein_coding | protein_coding | ENST00000256078 | 4 | 46148 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000788 | 0.789 | 125688 | 0 | 37 | 125725 | 0.000147 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.32 | 33 | 97.4 | 0.339 | 0.00000443 | 1244 |
| Missense in Polyphen | 4 | 34.974 | 0.11437 | 462 | ||
| Synonymous | 0.336 | 32 | 34.5 | 0.927 | 0.00000180 | 340 |
| Loss of Function | 1.06 | 6 | 9.53 | 0.629 | 4.84e-7 | 123 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000867 | 0.0000867 |
| Ashkenazi Jewish | 0.000199 | 0.000198 |
| East Asian | 0.000217 | 0.000217 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000238 | 0.000237 |
| Middle Eastern | 0.000217 | 0.000217 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). {ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:24623306, ECO:0000305}.;
- Disease
- DISEASE: Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:8955068}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269|PubMed:17332249}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Noonan syndrome 3 (NS3) [MIM:609942]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:16773572, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:17468812, ECO:0000269|PubMed:19396835, ECO:0000269|PubMed:20949621}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:7773929}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=Defects in KRAS are a cause of pylocytic astrocytoma (PA). Pylocytic astrocytomas are neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. {ECO:0000269|PubMed:16247081}.; DISEASE: Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. {ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:20949621, ECO:0000269|PubMed:21797849}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=KRAS mutations are involved in cancer development. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:24623306, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:3627975, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:6695174, ECO:0000269|PubMed:7773929}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Melanoma - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Long-term depression - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Gap junction - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Axon guidance - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Human papillomavirus infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Bisphosphonate Pathway, Pharmacodynamics;Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;VEGF Signaling Pathway;Fc Epsilon Receptor I Signaling in Mast Cells;EGF-Core;IL-5 Signaling Pathway;Integrated Breast Cancer Pathway;Angiogenesis overview;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Signaling Pathways in Glioblastoma;RalA downstream regulated genes;TNF alpha Signaling Pathway;Oncostatin M Signaling Pathway;Aryl Hydrocarbon Receptor;Extracellular vesicle-mediated signaling in recipient cells;Rac1-Pak1-p38-MMP-2 pathway;G Protein Signaling Pathways;BDNF-TrkB Signaling;MAPK Signaling Pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;Chemokine signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;miRNA regulation of prostate cancer signaling pathways;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;Ras Signaling;EMT transition in Colorectal Cancer;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;ErbB Signaling Pathway;DNA Damage Response (only ATM dependent);Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;SHC1 events in ERBB2 signaling;Developmental Biology;Signaling by PTK6;Signaling by GPCR;FRS-mediated FGFR2 signaling;Signaling by FGFR2;Regulation of Ras family activation;MAP2K and MAPK activation;SHC-mediated cascade:FGFR2;FRS-mediated FGFR3 signaling;Downstream signaling of activated FGFR2;RAF activation;SHC-mediated cascade:FGFR3;Downstream signaling of activated FGFR3;Disease;Signaling by FGFR3;Signal Transduction;FRS-mediated FGFR4 signaling;Gene expression (Transcription);SHC-mediated cascade:FGFR4;Downstream signaling of activated FGFR4;DAP12 signaling;DAP12 interactions;Signaling by FGFR4;Signaling by FGFR;RUNX3 regulates p14-ARF;Transcriptional regulation by RUNX3;telomeres telomerase cellular aging and immortality;VEGFA-VEGFR2 Pathway;Generic Transcription Pathway;B cell receptor signaling;SOS-mediated signalling;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;Activation of RAS in B cells;Signaling by the B Cell Receptor (BCR);SHC1 events in EGFR signaling;Signaling by PDGF;CD4 T cell receptor signaling-ERK cascade;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);RNA Polymerase II Transcription;HGF;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;IGF signaling;Innate Immune System;Immune System;Regulation of RAS by GAPs;FGF;Signaling by FGFR2 in disease;Adaptive Immune System;insulin Mam;Downstream signaling events of B Cell Receptor (BCR);Signaling by EGFR;p38MAPK events;Signalling to RAS;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;Activated NTRK2 signals through RAS;Signaling by NTRK2 (TRKB);Signaling by NTRKs;EGFR1;SHP2 signaling;Tie2 Signaling;Ras signaling in the CD4+ TCR pathway;ErbB1 downstream signaling;Cell surface interactions at the vascular wall;Hemostasis;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;PDGF;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;NCAM signaling for neurite out-growth;NGF;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;MAP kinase cascade;C-MYB transcription factor network;IL2-mediated signaling events;Downstream signal transduction;Class I PI3K signaling events;Signaling by EGFRvIII in Cancer;Signaling by EGFR in Cancer;Signaling by VEGF;GRB2 events in EGFR signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR4 in disease;Axon guidance;Signaling by FGFR3 fusions in cancer;Signaling by FGFR3 in disease;Signaling by SCF-KIT;Signaling by FGFR in disease;Signaling by ERBB2;SHC1 events in ERBB4 signaling;Signaling by ERBB4;SHC-related events triggered by IGF1R;IRS-related events triggered by IGF1R;IGF1R signaling cascade;MET activates RAS signaling;Signaling by FGFR1 in disease;Signaling by MET;Constitutive Signaling by EGFRvIII;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;Signaling by moderate kinase activity BRAF mutants;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signaling by Ligand-Responsive EGFR Variants in Cancer;EGF;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;GMCSF-mediated signaling events;mTOR signaling pathway;Neurotrophic factor-mediated Trk receptor signaling;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;Downstream signaling in naïve CD8+ T cells;Internalization of ErbB1;TCR signaling in naïve CD8+ T cells;CXCR3-mediated signaling events;EPHB forward signaling;Plasma membrane estrogen receptor signaling;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Trk receptor signaling mediated by the MAPK pathway;TCR signaling in naïve CD4+ T cells;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;insulin;VEGFR2 mediated cell proliferation;Signaling by FGFR1;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.533
Intolerance Scores
- loftool
- 0.190
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 42.88
Haploinsufficiency Scores
- pHI
- 1.00
- hipred
- Y
- hipred_score
- 0.769
- ghis
- 0.621
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.990
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Kras
- Phenotype
- muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; endocrine/exocrine gland phenotype; neoplasm; pigmentation phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype;
Zebrafish Information Network
- Gene name
- kras
- Affected structure
- nucleate erythrocyte
- Phenotype tag
- abnormal
- Phenotype quality
- mislocalised
Gene ontology
- Biological process
- MAPK cascade;liver development;positive regulation of protein phosphorylation;stimulatory C-type lectin receptor signaling pathway;Ras protein signal transduction;female pregnancy;positive regulation of cell population proliferation;visual learning;positive regulation of gene expression;cytokine-mediated signaling pathway;forebrain astrocyte development;actin cytoskeleton organization;regulation of protein stability;regulation of synaptic transmission, GABAergic;positive regulation of Rac protein signal transduction;response to isolation stress;endocrine signaling;positive regulation of MAP kinase activity;negative regulation of neuron apoptotic process;negative regulation of cell differentiation;regulation of long-term neuronal synaptic plasticity;homeostasis of number of cells within a tissue;positive regulation of nitric-oxide synthase activity;positive regulation of NF-kappaB transcription factor activity;striated muscle cell differentiation;response to glucocorticoid;response to mineralocorticoid;epithelial tube branching involved in lung morphogenesis;positive regulation of cellular senescence
- Cellular component
- cytoplasm;mitochondrion;cytosol;plasma membrane;focal adhesion;membrane;extrinsic component of cytoplasmic side of plasma membrane;membrane raft
- Molecular function
- GTPase activity;protein binding;GTP binding;GMP binding;GDP binding;LRR domain binding;protein-containing complex binding