Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.M146L

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.M146L
c.436A>C
Surrounding Variants
1 paper
NM_130811.4
p.M146V
c.436A>G
1 paper
NM_130811.4
p.M146L
c.436A>T
1 paper
NM_130811.4
p.E145K
c.433G>A
1 paper
NM_130811.4
p.D147H
c.439G>C
1 paper
NM_130811.4
p.E148Q
c.442G>C
1 paper
NM_130811.4
p.A141A
c.423C>G
1 paper
NM_130811.4
p.L150P
c.449T>C
2 papers
NM_130811.4
p.A141D
c.422C>A
1 paper
NM_130811.4
p.A141G
c.422C>G
1 paper
NM_130811.4
p.E151K
c.451G>A
1 paper
NM_130811.4
p.A141_R142del2
c.421_425del6
1 paper
NM_130811.4
p.Q152L
c.455A>T
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