Varaico: Literature-Extracted Genetic Variants

Gene:NAPA
Variant:p.E134A

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.E134A
c.401A>C
Surrounding Variants
1 paper
NM_003827.4
p.L135S
c.404T>C
1 paper
NM_003827.4
p.L135F
c.405G>C
1 paper
NM_003827.4
p.V136L
c.406G>T
1 paper
NM_003827.4
p.E132A
c.395A>C
1 paper
NM_003827.4
p.E129A
c.386A>C
1 paper
NM_003827.4
p.K122M
c.365A>T
2 papers
NM_003827.4
p.K122E
c.364A>G
1 paper
NM_003827.4
p.A120G
c.359C>G
1 paper
NM_003827.4
p.A120T
c.358G>A
1 paper
NM_003827.4
p.R116*
c.346C>T
1 paper
NM_003827.4
p.G115D
c.344G>A
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."