VAMP3

Chr 1

vesicle associated membrane protein 3

Also known as: CEB

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
27
Pubs (1 yr)
P/LP submissions
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted
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?
1.27LOEUF
pLI 0.003
Z-score 1.05
OE 0.61 (0.321.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.12Z-score
OE missense 0.96 (0.771.19)
58 obs / 60.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.321.27)
00.351.4
Missense OE?0.96 (0.771.19)
00.61.4
Synonymous OE?1.45
01.21.6
LoF obs/exp: 5 / 8.3Missense obs/exp: 58 / 60.6Syn Z: -1.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

VAMP3 · 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 →