ARHGAP44
Chr 17Rho GTPase activating protein 44
Also known as: NPC-A-10, RICH2
ARHGAP44 encodes a GTPase-activating protein that regulates CDC42 and RAC1 signaling to control actin cytoskeleton organization, dendritic spine formation, and synaptic plasticity in neurons. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.22), suggesting that mutations would likely cause severe neurodevelopmental disorders. The inheritance pattern and specific disease associations have not yet been established in the literature.
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
127 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 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 86 | 4 | 0 | 90 |
Likely Benign | 0 | 1 | 0 | 4 | 5 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 87 | 13 | 5 | 105 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARHGAP44 · 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