TUBA1B

Chr 12

tubulin alpha 1b

Also known as: K-ALPHA-1

NCBI Gene: 10376ENSG00000123416UniProt: P68363

Enables several functions, including GTP binding activity; GTPase activity; and ubiquitin protein ligase binding activity. A structural constituent of cytoskeleton. Involved in microtubule cytoskeleton organization. Located in cilium and microtubule. Is active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
33
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.32
LOEUF· LoF intol.
LOF
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
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.32LOEUF
pLI 0.968
Z-score 3.36
OE 0.07 (0.02–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
5.41Z-score
OE missense 0.06 (0.04–0.09)
16 obs / 263.0 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.07 (0.02–0.32)
0≤0.351.4
Missense OE?0.06 (0.04–0.09)
0≤0.61.4
Synonymous OE?1.23
0≤1.21.6
LoF obs/exp: 1 / 15.0Missense obs/exp: 16 / 263.0Syn Z: -1.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUBA1B · 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