PRAG1
Basic information
Region (hg38): 8:8317736-8386439
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRAG1 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 | 8 | |||||
| missense | 211 | 14 | 225 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 1 | |||||
| Total | 0 | 0 | 211 | 23 | 1 |
Variants in PRAG1
This is a list of pathogenic ClinVar variants found in the PRAG1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-8318164-T-C | not specified | Uncertain significance (Mar 29, 2024) | ||
| 8-8318171-G-C | not specified | Uncertain significance (Jan 19, 2024) | ||
| 8-8318195-C-T | not specified | Uncertain significance (Nov 14, 2023) | ||
| 8-8318284-A-G | not specified | Uncertain significance (Aug 10, 2024) | ||
| 8-8318356-G-A | not specified | Uncertain significance (Nov 17, 2023) | ||
| 8-8318375-G-A | not specified | Uncertain significance (Nov 09, 2024) | ||
| 8-8318393-G-C | not specified | Uncertain significance (Nov 11, 2024) | ||
| 8-8318407-C-A | not specified | Uncertain significance (Dec 03, 2024) | ||
| 8-8318421-G-C | not specified | Uncertain significance (Mar 04, 2024) | ||
| 8-8318461-T-C | not specified | Uncertain significance (Jul 14, 2024) | ||
| 8-8318522-C-T | not specified | Uncertain significance (Jun 11, 2024) | ||
| 8-8318542-C-T | not specified | Uncertain significance (Dec 15, 2022) | ||
| 8-8318568-G-C | not specified | Uncertain significance (Jan 30, 2024) | ||
| 8-8318591-A-G | not specified | Uncertain significance (Mar 24, 2023) | ||
| 8-8318671-C-T | not specified | Uncertain significance (May 04, 2023) | ||
| 8-8318755-T-C | not specified | Uncertain significance (Oct 12, 2022) | ||
| 8-8318806-C-T | not specified | Uncertain significance (Jun 29, 2022) | ||
| 8-8318813-C-T | not specified | Uncertain significance (Dec 04, 2024) | ||
| 8-8318818-G-C | not specified | Uncertain significance (Oct 20, 2024) | ||
| 8-8318819-G-A | not specified | Uncertain significance (Apr 15, 2024) | ||
| 8-8318825-C-T | not specified | Uncertain significance (May 02, 2024) | ||
| 8-8318843-C-A | not specified | Uncertain significance (Apr 23, 2024) | ||
| 8-8318848-G-A | not specified | Uncertain significance (Jan 02, 2024) | ||
| 8-8318854-G-A | not specified | Uncertain significance (Jun 11, 2024) | ||
| 8-8318858-C-T | not specified | Uncertain significance (May 06, 2024) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Catalytically inactive protein kinase that acts as a scaffold protein. Functions as an effector of the small GTPase RND2, which stimulates RhoA activity and inhibits NGF-induced neurite outgrowth (By similarity). Promotes Src family kinase (SFK) signaling by regulating the subcellular localization of CSK, a negative regulator of these kinases, leading to the regulation of cell morphology and motility by a CSK-dependent mechanism (By similarity). Acts as a critical coactivator of Notch signaling (By similarity). {ECO:0000250|UniProtKB:D3ZMK9, ECO:0000250|UniProtKB:Q571I4}.;
Mouse Genome Informatics
- Gene name
- Prag1
- 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);
Gene ontology
- Biological process
- protein phosphorylation;regulation of cell shape;regulation of Notch signaling pathway;negative regulation of neuron projection development;cell migration;positive regulation of Rho protein signal transduction;regulation of cell motility
- Cellular component
- nucleus;cytoplasm;focal adhesion
- Molecular function
- protein kinase activity;protein binding;ATP binding;identical protein binding