Varaico: Literature-Extracted Genetic Variants

Gene:NES
Variant:p.R232H

NES

558 papers

RefSeq Summary

This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011].

Pfam Domains

Filamentaa 7–159UCSCIntermediate filament protein
Filamentaa 178–312UCSCIntermediate filament protein

Gene Aliases

HGNC Name

nestin

HGNC Alias Symbol

FLJ21841

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006617.2
p.R232H
c.695G>A
Surrounding Variants
1 paper
NM_006617.2
p.R232P
c.695G>C
1 paper
NM_006617.2
p.Q226L
c.677A>T
1 paper
NM_006617.2
p.A241A
c.723G>A
1 paper
NM_006617.2
p.R222L
c.665G>T
1 paper
NM_006617.2
p.E220insFs
c.659dupA
2 papers
NM_006617.2
p.Q244*
c.730C>T
1 paper
NM_006617.2
p.R245S
c.735G>C
1 paper
NM_006617.2
p.E247E
c.741G>A
1 paper
NM_006617.2
p.G217S
c.649G>A
1 paper
NM_006617.2
p.Q216R
c.647A>G
1 paper
NM_006617.2
p.V215G
c.644T>G
1 paper
NM_006617.2
p.V215A
c.644T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."