Varaico: Literature-Extracted Genetic Variants

Gene:VAMP7
Variant:p.I139S

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
Selected Variant
2 papers
NM_005638.6
p.I139S
c.416T>G
Surrounding Variants
1 paper
NM_005638.6
p.R142G
c.424A>G
1 paper
NM_005638.6
p.N80Y
c.238A>T
1 paper
NM_005638.6
p.A75_N80insFs
c.224_240dup17
2 papers
NM_005638.6
p.D69A
c.206A>C
1 paper
NM_005638.6
p.F52S
c.155T>C
1 paper
NM_005638.6
p.Y50S
c.149A>C
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