Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.L57P

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
1 paper
NM_130811.4
p.L57P
c.170T>C
Surrounding Variants
3 papers
NM_130811.4
p.L57R
c.170T>G
1 paper
NM_130811.4
p.E58_I60delFs
c.172_178del7
1 paper
NM_130811.4
p.E58insFs
c.173_174insA
1 paper
NM_130811.4
p.Q56*
c.166C>T
4 papers
NM_130811.4
p.R59C
c.175C>T
1 paper
NM_130811.4
p.E55V
c.164A>T
7 papers
NM_130811.4
p.R59P
c.176G>C
2 papers
NM_130811.4
p.E55Splc
c.164-2A>G
1 paper
NM_130811.4
p.G63delFs
c.187_188delGG
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
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