Varaico: Literature-Extracted Genetic Variants

Gene:NAPA
Variant:p.A46D

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.A46D
c.137C>A
Surrounding Variants
1 paper
NM_003827.4
p.R47R
c.141A>G
1 paper
NM_003827.4
p.E43A
c.128A>C
1 paper
NM_003827.4
p.E43K
c.127G>A
1 paper
NM_003827.4
p.C42R
c.124T>C
1 paper
NM_003827.4
p.E40D
c.120A>T
1 paper
NM_003827.4
p.E40K
c.118G>A
1 paper
NM_003827.4
p.K53E
c.157A>G
1 paper
NM_003827.4
p.E39A
c.116A>C
1 paper
NM_003827.4
p.E39K
c.115G>A
1 paper
NM_003827.4
p.A60T
c.178G>A
1 paper
NM_003827.4
p.A64A
c.192G>A
1 paper
NM_003827.4
p.C66S
c.196T>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."