RASL10B

RAS like family 10 member B, the group of RAS type GTPase family

Basic information

Region (hg38): 17:35731639-35743521

Links

ENSG00000270885 ∙ NCBI:91608 ∙ OMIM:612128 ∙ HGNC:30295 ∙ Uniprot:Q96S79 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RASL10B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASL10B 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						0
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in RASL10B

This is a list of pathogenic ClinVar variants found in the RASL10B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-35735299-C-T		not specified	Uncertain significance (Apr 09, 2024)
17-35735356-C-G		not specified	Uncertain significance (Jan 29, 2024)
17-35740440-G-A		not specified	Uncertain significance (Oct 13, 2021)
17-35740506-C-T		not specified	Uncertain significance (Sep 22, 2023)
17-35741138-A-C		not specified	Uncertain significance (Sep 29, 2023)
17-35741206-C-A		not specified	Uncertain significance (Mar 17, 2023)
17-35741222-G-A		not specified	Uncertain significance (Dec 11, 2023)
17-35741246-G-C		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May facilitate the release of atrial natriuretic peptide by cardiomyocytes and hence play a role in the regulation of arterial pressure. {ECO:0000250}.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.411
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.193
• hipred: Y
• hipred_score: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.265

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rasl10b
• Phenotype: cellular phenotype

Gene ontology

• Biological process: regulation of systemic arterial blood pressure by atrial natriuretic peptide;signal transduction;positive regulation of peptide hormone secretion
• Cellular component: plasma membrane
• Molecular function: GTPase activity;GTP binding