Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.M71T

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.M71T
c.212T>C
Surrounding Variants
2 papers
NM_130811.4
p.E75K
c.223G>A
23 papers
NM_130811.4
p.I67N
c.200T>A
14 papers
NM_130811.4
p.I67T
c.200T>C
2 papers
NM_130811.4
p.I67V
c.199A>G
1 paper
NM_130811.4
p.K76*
c.226A>T
2 papers
NM_130811.4
p.Q66P
c.197A>C
1 paper
NM_130811.4
p.L78insFs
c.232_233dupTT
1 paper
NM_130811.4
p.M64I
c.192G>A
1 paper
NM_130811.4
p.M64I
c.192G>C
1 paper
NM_130811.4
p.M64I
c.192G>T
1 paper
NM_130811.4
p.L78M
c.232T>A
1 paper
NM_130811.4
p.L78V
c.232T>G
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