DOCK10
Chr 2dedicator of cytokinesis 10
Also known as: DRIP2, Nbla10300, ZIZ3
The protein functions as a guanine nucleotide-exchange factor that activates CDC42 and RAC1 GTPases and is essential for dendritic spine morphogenesis in Purkinje cells and hippocampal neurons. Mutations cause autosomal recessive intellectual disability with seizures, microcephaly, and cerebellar atrophy. The gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
352 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 | 26 | 0 | 26 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 264 | 2 | 0 | 266 |
Likely Benign | 0 | 8 | 0 | 1 | 9 |
Benign | 0 | 1 | 1 | 3 | 5 |
Conflicting | — | 1 | |||
| Total | 0 | 273 | 30 | 4 | 308 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DOCK10 · 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