Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.D166Y

SNAP25

317 papers

RefSeq Summary

Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target me...

Pfam Domains

SNAP-25aa 91–142UCSCSNAP-25 family

Gene Aliases

HGNC Name

synaptosome associated protein 25

HGNC Alias Symbols

SNAP-25; RIC-4; RIC4; SEC9; bA416N4.2; dJ1068F16.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_130811.4
p.D166Y
c.496G>T
Surrounding Variants
3 papers
NM_130811.4
p.D166A
c.497A>C
3 papers
NM_130811.4
p.D166G
c.497A>G
1 paper
NM_130811.4
p.L165V
c.493C>G
1 paper
NM_130811.4
p.L165L
c.493C>T
1 paper
NM_130811.4
p.A164T
c.490G>A
1 paper
NM_130811.4
p.G168C
c.502G>T
1 paper
NM_130811.4
p.G168delFs
c.504delC
1 paper
NM_130811.4
p.E170delFs
c.509delA
1 paper
NM_130811.4
p.D172_I178del7
c.514_533del21
2 papers
NM_130811.4
p.E170A
c.509A>C
1 paper
NM_130811.4
p.R161delFs
c.483delT
1 paper
NM_130811.4
p.T173_Q174insA
c.517_521ins3
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