RAB3GAP1
Chr 2ARRAB3 GTPase activating protein catalytic subunit 1
Also known as: MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1
The protein functions as the catalytic subunit of a Rab3 GTPase-activating complex that regulates GTP hydrolysis by Rab proteins and has guanine nucleotide exchange factor activity toward RAB18, playing essential roles in eye and brain development. Mutations cause Warburg micro syndrome 1 and Martsolf syndrome 2, both autosomal recessive disorders affecting neurodevelopment with ocular abnormalities. The gene is highly constrained against loss-of-function variants (LOEUF 0.535), reflecting its critical developmental functions.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
499 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 32 | 0 | 13 | 0 | 45 |
Likely Pathogenic | 20 | 1 | 3 | 0 | 24 |
VUS | 5 | 172 | 29 | 2 | 208 |
Likely Benign | 0 | 6 | 91 | 70 | 167 |
Benign | 0 | 0 | 15 | 0 | 15 |
Conflicting | — | 8 | |||
| Total | 57 | 179 | 151 | 72 | 467 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RAB3GAP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools