Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.K201Q

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.K201Q
c.601A>C
Surrounding Variants
2 papers
NM_130811.4
p.K201E
c.601A>G
2 papers
NM_130811.4
p.K201*
c.601A>T
2 papers
NM_130811.4
p.A199E
c.596C>A
4 papers
NM_130811.4
p.A199G
c.596C>G
3 papers
NM_130811.4
p.A199V
c.596C>T
2 papers
NM_130811.4
p.L203L
c.609G>A
6 papers
NM_130811.4
p.R198P
c.593G>C
1 paper
NM_130811.4
p.R198C
c.592C>T
2 papers
NM_130811.4
p.G204*
c.610G>T
1 paper
NM_130811.4
p.Q197L
c.590A>T
5 papers
NM_130811.4
p.Q197*
c.589C>T
1 paper
NM_130811.4
p.N196K
c.588C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."