Varaico: Literature-Extracted Genetic Variants

Gene:SNAPIN
Variant:p.E49*

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.E49*
c.145G>T
Surrounding Variants
1 paper
NM_012437.6
p.E49fs
c.145_146fs
1 paper
NM_012437.6
p.E49D
c.147G>C
1 paper
NM_012437.6
p.E49D
c.147G>T
2 papers
NM_012437.6
p.R55W
c.163C>T
1 paper
NM_012437.6
p.L61I
c.181C>A
2 papers
NM_012437.6
p.T63A
c.187A>G
1 paper
NM_012437.6
p.E64D
c.192A>C
2 papers
NM_012437.6
p.E64D
c.192A>T
1 paper
NM_012437.6
p.S42A
c.124T>G
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
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