Varaico: Literature-Extracted Genetic Variants

Gene:SNAPIN
Variant:p.S42A

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
Selected Variant
1 paper
NM_012437.6
p.S42A
c.124T>G
Surrounding Variants
1 paper
NM_012437.6
p.L40F
c.118C>T
1 paper
NM_012437.6
p.Q38*
c.112C>T
1 paper
NM_012437.6
p.V37L
c.109G>C
1 paper
NM_012437.6
p.V37L
c.109G>T
1 paper
NM_012437.6
p.E31E
c.93G>A
1 paper
NM_012437.6
p.E31*
c.91G>T
1 paper
NM_012437.6
p.L30R
c.89T>G
4 papers
NM_012437.6
p.R22R
c.66C>A
1 paper
NM_012437.6
p.T20P
c.58A>C
2 papers
NM_012437.6
p.T20A
c.58A>G
1 paper
NM_012437.6
p.G18R
c.52G>A
2 papers
NM_012437.6
p.T14A
c.40A>G
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