ARHGEF10
Chr 8ADRho guanine nucleotide exchange factor 10
Also known as: GEF10, SNCV
This protein functions as a Rho guanine nucleotide exchange factor that regulates small Rho GTPases and may be involved in developmental myelination of peripheral nerves. Mutations cause slowed nerve conduction velocity with autosomal dominant inheritance. The gene shows minimal constraint against loss-of-function variants (pLI near zero), suggesting the phenotype may not result from simple protein loss.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The Badonyi & Marsh model scores loss-of-function highest, but genomic evidence most strongly supports gain-of-function as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARHGEF10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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