Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.D51A

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
3 papers
NM_130811.4
p.D51A
c.152A>C
Surrounding Variants
1 paper
NM_130811.4
p.D51V
c.152A>T
4 papers
NM_130811.4
p.D51N
c.151G>A
2 papers
NM_130811.4
p.E52K
c.154G>A
2 papers
NM_130811.4
p.E52Q
c.154G>C
4 papers
NM_130811.4
p.E52A
c.155A>C
6 papers
NM_130811.4
p.L50S
c.149T>C
1 paper
NM_130811.4
p.Q53K
c.157C>A
1 paper
NM_130811.4
p.Q53E
c.157C>G
1 paper
NM_130811.4
p.Q53R
c.158A>G
1 paper
NM_130811.4
p.M49delFs
c.146delT
1 paper
NM_130811.4
p.G54delFs
c.162delA
20 papers
NM_130811.4
p.V48F
c.142G>T
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