SRGAP3
Chr 3SLIT-ROBO Rho GTPase activating protein 3
Also known as: ARHGAP14, MEGAP, SRGAP2, WRP
The protein functions as a GTPase-activating protein that regulates RAC1 and CDC42 signaling in neurons and is involved in postsynapse assembly and regulation of cell migration. Mutations cause autosomal recessive intellectual disability with additional features that may include behavioral abnormalities and developmental delays. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
100 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 | 0 | 0 | 3 | 0 | 3 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 68 | 1 | 0 | 70 |
Likely Benign | 0 | 4 | 0 | 2 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 72 | 4 | 2 | 79 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SRGAP3 · 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