RASL10B

Chr 17

RAS like family 10 member B

Also known as: RRP17, VTS58635

NCBI Gene: 91608ENSG00000270885UniProt: Q96S79

The protein facilitates the release of atrial natriuretic peptide by cardiomyocytes through G protein activity and GTP binding, thereby regulating arterial blood pressure. Based on the predicted dominant-negative mechanism and low constraint metrics (pLI 0.004, LOEUF 1.13), mutations would likely follow an autosomal dominant inheritance pattern, though specific disease associations have not yet been established.

Summary from RefSeq, UniProt, Mechanism
0
Active trials
2
Pubs (1 yr)
7
P/LP submissions
0%
P/LP missense
1.13
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— RASL10B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 unique Pathogenic / Likely Pathogenic· 25 VUS of 33 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.13LOEUF
pLI 0.004
Z-score 1.31
OE 0.54 (0.28–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.61Z-score
OE missense 0.63 (0.53–0.75)
93 obs / 148.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.54 (0.28–1.13)
0≤0.351.4
Missense OE0.63 (0.53–0.75)
0≤0.61.4
Synonymous OE0.76
0≤1.21.6
LoF obs/exp: 5 / 9.3Missense obs/exp: 93 / 148.2Syn Z: 1.52
DN
0.76top 25%
GOF
0.75top 25%
LOF
0.3454th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

33 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
VUS25
7
Pathogenic
25
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
21
4
0
25
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02111032

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RASL10B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients