Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP1
Variant:p.L234L

NIPSNAP1

24 papers

RefSeq Summary

This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inn...

Pfam Domains

NIPSNAPaa 185–282UCSCNIPSNAP

Gene Aliases

HGNC Name

nipsnap homolog 1

HGNC Previous Names

NIPSNAP, C. elegans, homolog 1; nipsnap homolog 1 (C. elegans)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003634.4
p.L234L
c.702C>G
Surrounding Variants
1 paper
NM_003634.4
p.G220S
c.658G>A
1 paper
NM_003634.4
p.G219G
c.657C>T
1 paper
NM_003634.4
p.Q212E
c.634C>G
1 paper
NM_003634.4
p.G201R
c.601G>A
1 paper
NM_003634.4
p.R179T
c.536G>C
1 paper
NM_003634.4
p.N174T
c.521A>C
1 paper
NM_003634.4
p.S171I
c.512G>T
1 paper
NM_003634.4
p.L168L
c.504C>T
1 paper
NM_003634.4
p.Q165K
c.493C>A
1 paper
NM_003634.4
p.S161A
c.481T>G
1 paper
NM_003634.4
p.R155Q
c.464G>A
1 paper
NM_003634.4
p.R155W
c.463C>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."