TUBA1C

Chr 12

tubulin alpha 1c

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOocyte/zygote/embryo maturation arrest 24
0
Active trials
20
Pubs (1 yr)
P/LP submissions
P/LP missense
0.79
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
0.79LOEUF
pLI 0.007
Z-score 2.15
OE 0.40 (0.220.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.17Z-score
OE missense 0.62 (0.550.71)
165 obs / 264.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.40 (0.220.79)
00.351.4
Missense OE?0.62 (0.550.71)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 6 / 15.0Missense obs/exp: 165 / 264.3Syn Z: -0.71

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

TUBA1C · 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

No active trials found for this gene.

Search ClinicalTrials.gov →