TOR3A

Chr 1

torsin family 3 member A

Also known as: ADIR, ADIR2

NCBI Gene: 64222ENSG00000186283UniProt: Q9H497

Enables ATP hydrolysis activity. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.63
LOEUF
DN
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?
1.63LOEUF
pLI 0.000
Z-score -0.36
OE 1.10 (0.75–1.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.12Z-score
OE missense 0.98 (0.87–1.10)
204 obs / 208.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.10 (0.75–1.63)
0≤0.351.4
Missense OE?0.98 (0.87–1.10)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 17 / 15.5Missense obs/exp: 204 / 208.9Syn Z: -0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TOR3A · 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