ARHGAP19
Chr 10ARRho GTPase activating protein 19
Also known as: CMT2KK
This protein functions as a GTPase activator that converts Rho-type GTPases to their inactive GDP-bound state, regulating cellular processes including migration, proliferation, and actin remodeling. Biallelic mutations cause Charcot-Marie-Tooth disease, axonal type 2KK, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
95 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 | 1 | 2 | 17 | 0 | 20 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 0 | 67 | 5 | 0 | 72 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 2 | 71 | 22 | 0 | 95 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARHGAP19 · 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