DOK3

Chr 5

docking protein 3

Also known as: DOKL

NCBI Gene: 79930ENSG00000146094UniProt: Q7L591

Predicted to be involved in Ras protein signal transduction and cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be located in ficolin-1-rich granule membrane and plasma membrane. Predicted to be active in cytoplasm. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.001
Z-score 2.20
OE 0.44 (0.26–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.36Z-score
OE missense 0.94 (0.85–1.04)
292 obs / 310.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.26–0.80)
0≤0.351.4
Missense OE?0.94 (0.85–1.04)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 8 / 18.1Missense obs/exp: 292 / 310.1Syn Z: 0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DOK3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients