Varaico: Literature-Extracted Genetic Variants

Gene:NAPA
Variant:p.C66S

NAPA

86 papers

RefSeq Summary

This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP...

Pfam Domains

SNAPaa 8–288UCSCSoluble NSF attachment protein, SNAP

Gene Aliases

HGNC Name

NSF attachment protein alpha

HGNC Previous Name

N-ethylmaleimide-sensitive factor attachment protein, alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003827.4
p.C66S
c.196T>A
Surrounding Variants
1 paper
NM_003827.4
p.C66S
c.197G>C
1 paper
NM_003827.4
p.A64A
c.192G>A
1 paper
NM_003827.4
p.L73L
c.219G>A
1 paper
NM_003827.4
p.Q74*
c.220C>T
1 paper
NM_003827.4
p.D80A
c.239A>C
1 paper
NM_003827.4
p.A81G
c.242C>G
1 paper
NM_003827.4
p.C84S
c.250T>A
1 paper
NM_003827.4
p.C84S
c.251G>C
1 paper
NM_003827.4
p.D87A
c.260A>C
1 paper
NM_003827.4
p.D87D
c.261C>T
1 paper
NM_003827.4
p.G89D
c.266G>A
1 paper
NM_003827.4
p.A91T
c.271G>A
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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."