Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.Q174P

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
4 papers
NM_130811.4
p.Q174P
c.521A>C
Surrounding Variants
1 paper
NM_130811.4
p.Q174R
c.521A>G
4 papers
NM_130811.4
p.Q174L
c.521A>T
1 paper
NM_130811.4
p.Q174K
c.520C>A
1 paper
NM_130811.4
p.Q174E
c.520C>G
11 papers
NM_130811.4
p.Q174*
c.520C>T
1 paper
NM_130811.4
p.T173_Q174insA
c.517_521ins3
2 papers
NM_130811.4
p.R176C
c.526C>T
2 papers
NM_130811.4
p.Q177*
c.529C>T
1 paper
NM_130811.4
p.Q177H
c.531G>C
1 paper
NM_130811.4
p.Q177H
c.531G>T
2 papers
NM_130811.4
p.E170A
c.509A>C
1 paper
NM_130811.4
p.E170delFs
c.509delA
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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."