TBC1D31
Chr 8TBC1 domain family member 31
Also known as: Gm85, WDR67
Enables molecular adaptor activity. Involved in cilium assembly. Located in Golgi apparatus; centriolar satellite; and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.47
OE 0.66 (0.51–0.86)
Typical tolerance to LoF variation
Missense Constraint?
0.91Z-score
OE missense 0.89 (0.83–0.96)
486 obs / 545.5 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.66 (0.51–0.86)
0≤0.351.4
Missense OE?0.89 (0.83–0.96)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 40 / 60.7Missense obs/exp: 486 / 545.5Syn Z: 1.14
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TBC1D31 · 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