Varaico: Literature-Extracted Genetic Variants

Gene:SNAPIN
Variant:p.I128N

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.I128N
c.383T>A
Surrounding Variants
1 paper
NM_012437.6
p.P131insFs
c.392dupC
1 paper
NM_012437.6
p.G127E
c.380G>A
1 paper
NM_012437.6
p.P130A
c.388C>G
1 paper
NM_012437.6
p.S126L
c.377C>T
1 paper
NM_012437.6
p.S133A
c.397T>G
1 paper
NM_012437.6
p.R120K
c.359G>A
3 papers
NM_012437.6
p.T117A
c.349A>G
1 paper
NM_012437.6
p.Q103_E104Splc
c.310-1G>A
1 paper
NM_012437.6
p.Q103*
c.307C>T
1 paper
NM_012437.6
p.L78F
c.232C>T
1 paper
NM_012437.6
p.K73K
c.219G>A
1 paper
NM_012437.6
p.E70K
c.208G>A
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