ARHGAP35
Chr 19Rho GTPase activating protein 35
Also known as: GRF-1, GRLF1, P190-A, P190A, p190ARhoGAP, p190RhoGAP
The protein functions as a Rho GTPase-activating protein that regulates cell adhesion, migration, and morphogenesis, playing critical roles in retinal development, neural tube fusion, cerebral hemisphere midline fusion, and axon outgrowth and guidance. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and structural brain abnormalities, inherited in an autosomal dominant pattern. The gene is extremely intolerant to loss-of-function variants, indicating that proper protein dosage is critical for normal neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARHGAP35 · 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