DOK6
Chr 18docking protein 6
Also known as: DOK5L, HsT3226
DOK6 encodes an adaptor protein that provides a docking platform for signaling complexes and promotes RET-mediated neurite growth in brain development. Mutations cause autosomal recessive developmental delay with dysmorphic facies and brain abnormalities, typically manifesting in early childhood. The gene shows significant constraint against loss-of-function variants (LOEUF 0.55), indicating that complete loss of DOK6 function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DOK6 · 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