Varaico: Literature-Extracted Genetic Variants

Gene:SNAPIN

SNAPIN

42 papers

RefSeq Summary

The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and...

Pfam Domains

Snapin_Pallidinaa 23–110UCSCSnapin/Pallidin

Gene Aliases

HGNC Name

SNAP associated protein

HGNC Previous Symbol

SNAPAP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
4 papers
NM_012437.6
p.R22R
c.66C>A
3 papers
NM_012437.6
p.T117A
c.349A>G
2 papers
NM_012437.6
p.T14A
c.40A>G
2 papers
NM_012437.6
p.T20A
c.58A>G
2 papers
NM_012437.6
p.R55W
c.163C>T
2 papers
NM_012437.6
p.T63A
c.187A>G
2 papers
NM_012437.6
p.E64D
c.192A>T
1 paper
NM_012437.6
p.M1K
c.2T>A
1 paper
NM_012437.6
p.G18R
c.52G>A
1 paper
NM_012437.6
p.T20P
c.58A>C
1 paper
NM_012437.6
p.L30R
c.89T>G
1 paper
NM_012437.6
p.E31*
c.91G>T
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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."