TSNARE1

Chr 8

t-SNARE domain containing 1

NCBI Gene: 203062ENSG00000171045UniProt: Q96NA8OMIM: 620986

Predicted to enable SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; vesicle docking; and vesicle fusion. Predicted to be located in membrane. Predicted to be part of SNARE complex. Predicted to be active in synaptic vesicle. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.22
OE 0.53 (0.35–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.05Z-score
OE missense 1.01 (0.92–1.10)
326 obs / 323.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.53 (0.35–0.83)
0≤0.351.4
Missense OE?1.01 (0.92–1.10)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 14 / 26.3Missense obs/exp: 326 / 323.3Syn Z: 0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSNARE1 · 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