DOCK7
Chr 1ARdedicator of cytokinesis 7
Also known as: DEE23, EIEE23, ZIR2
The protein functions as a guanine nucleotide exchange factor that activates RAC1 and RAC3 small GTPases to regulate axon formation and neuronal polarization. Biallelic mutations cause developmental and epileptic encephalopathy 23, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted neuronal development due to impaired axon formation and polarization.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
300 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 | 8 | 1 | 4 | 0 | 13 |
Likely Pathogenic | 10 | 0 | 0 | 0 | 10 |
VUS | 2 | 115 | 5 | 0 | 122 |
Likely Benign | 0 | 1 | 66 | 50 | 117 |
Benign | 0 | 0 | 5 | 0 | 5 |
Conflicting | — | 1 | |||
| Total | 20 | 117 | 80 | 50 | 268 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DOCK7 · 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