Varaico: Literature-Extracted Genetic Variants

Gene:VAMP7

VAMP7

40 papers

RefSeq Summary

This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes ...

Pfam Domains

Longinaa 29–108UCSCRegulated-SNARE-like domain
Synaptobrevinaa 125–205UCSCSynaptobrevin

Gene Aliases

HGNC Name

vesicle associated membrane protein 7

HGNC Previous Symbol

SYBL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
3 papers
NM_005638.6
p.Y45S
c.134A>C
3 papers
NM_005638.6
p.Y45F
c.134A>T
3 papers
NM_005638.6
p.Y45S
c.134A>C
3 papers
NM_005638.6
p.Y45F
c.134A>T
2 papers
NM_005638.6
p.D69A
c.206A>C
2 papers
NM_005638.6
p.I139S
c.416T>G
2 papers
NM_005638.6
p.D69A
c.206A>C
2 papers
NM_005638.6
p.I139S
c.416T>G
1 paper
NM_005638.6
p.F5delFs
c.15delT
1 paper
NM_005638.6
p.L4fs
c.10_11fs
1 paper
NM_005638.6
p.V8D
c.23T>A
1 paper
NM_005638.6
p.C21S
c.61T>A
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