Varaico: Literature-Extracted Genetic Variants

Gene:NAPA
Variant:p.K163E

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
2 papers
NM_003827.4
p.K163E
c.487A>G
Surrounding Variants
1 paper
NM_003827.4
p.K163*
c.487A>T
1 paper
NM_003827.4
p.K163_C164insFs
c.489_490insA
1 paper
NM_003827.4
p.L165P
c.494T>C
1 paper
NM_003827.4
p.S160L
c.479C>T
1 paper
NM_003827.4
p.G170D
c.509G>A
1 paper
NM_003827.4
p.Y171Y
c.513C>T
1 paper
NM_003827.4
p.K180*
c.538A>T
1 paper
NM_003827.4
p.K180insFs
c.539_540ins20
1 paper
NM_003827.4
p.N158D
c.472A>G
1 paper
NM_003827.4
p.E156A
c.467A>C
1 paper
NM_003827.4
p.E155A
c.464A>C
1 paper
NM_003827.4
p.D150A
c.449A>C
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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."