Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.K94Splc

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.K94Splc
c.281+2T>G
Surrounding Variants
2 papers
NM_130811.4
p.K94Splc
c.281+2T>A
1 paper
NM_130811.4
p.K94Splc
c.281+1G>A
13 papers
NM_130811.4
p.C92S
c.275G>C
13 papers
NM_130811.4
p.C92S
c.274T>A
1 paper
NM_130811.4
p.C92fs
c.274_275fs
2 papers
NM_130811.4
p.P91T
c.271C>A
1 paper
NM_130811.4
p.P91S
c.271C>T
1 paper
NM_130811.4
p.P91fs
c.271_272fs
12 papers
NM_130811.4
p.C90S
c.269G>C
1 paper
NM_130811.4
p.C90insFs
c.270dupT
1 paper
NM_130811.4
p.C90delFs
c.270delT
12 papers
NM_130811.4
p.C90S
c.268T>A
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