Varaico: Literature-Extracted Genetic Variants

Gene:SNAPIN
Variant:p.E64_R67Fs

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.E64_R67Fs
c.191_199delinsCTFs
Surrounding Variants
1 paper
NM_012437.6
p.C66S
c.196T>A
1 paper
NM_012437.6
p.C66S
c.197G>C
1 paper
NM_012437.6
p.N69T
c.206A>C
1 paper
NM_012437.6
p.E70K
c.208G>A
1 paper
NM_012437.6
p.K73K
c.219G>A
1 paper
NM_012437.6
p.L78F
c.232C>T
1 paper
NM_012437.6
p.Q103*
c.307C>T
1 paper
NM_012437.6
p.E64D
c.192A>C
2 papers
NM_012437.6
p.E64D
c.192A>T
2 papers
NM_012437.6
p.T63A
c.187A>G
1 paper
NM_012437.6
p.L61I
c.181C>A
2 papers
NM_012437.6
p.R55W
c.163C>T
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