Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP2
Variant:p.R20Q

NIPSNAP2

23 papers

RefSeq Summary

This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation...

Pfam Domains

NIPSNAPaa 187–284UCSCNIPSNAP

Gene Aliases

HGNC Name

nipsnap homolog 2

HGNC Previous Symbol

GBAS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001483.3
p.R20Q
c.59G>A
Surrounding Variants
1 paper
NM_001483.3
p.P28L
c.83C>T
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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."