Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.D186A

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
2 papers
NM_130811.4
p.D186A
c.557A>C
Surrounding Variants
1 paper
NM_130811.4
p.S187_N188del2
c.559_563del6
10 papers
NM_130811.4
p.S187A
c.559T>G
7 papers
NM_130811.4
p.S187C
c.560C>G
1 paper
NM_130811.4
p.N188T
c.563A>C
6 papers
NM_130811.4
p.I192N
c.575T>A
5 papers
NM_130811.4
p.I192T
c.575T>C
2 papers
NM_130811.4
p.D193A
c.578A>C
1 paper
NM_130811.4
p.E194K
c.580G>A
1 paper
NM_130811.4
p.N196K
c.588C>A
5 papers
NM_130811.4
p.Q197*
c.589C>T
1 paper
NM_130811.4
p.Q197L
c.590A>T
1 paper
NM_130811.4
p.R198C
c.592C>T
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