Varaico: Literature-Extracted Genetic Variants

Gene:NAPB
Variant:p.K22R

NAPB

26 papers

RefSeq Summary

This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membra...

Pfam Domains

SNAPaa 8–292UCSCSoluble NSF attachment protein, SNAP

Gene Aliases

HGNC Name

NSF attachment protein beta

HGNC Alias Symbols

SNAP-BETA; SNAPB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022080.3
p.K22R
c.65A>G
Surrounding Variants
1 paper
NM_022080.3
p.G33V
c.98G>T
1 paper
NM_022080.3
p.A4A
c.12G>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."