Varaico: Literature-Extracted Genetic Variants

Gene:NES
Variant:p.R191H

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
4 papers
NM_006617.2
p.R191H
c.572G>A
Surrounding Variants
1 paper
NM_006617.2
p.R196C
c.586C>T
1 paper
NM_006617.2
p.V197L
c.589G>T
1 paper
NM_006617.2
p.V197L
c.589G>C
1 paper
NM_006617.2
p.V197M
c.589G>A
1 paper
NM_006617.2
p.M200insFs
c.599_600insT
1 paper
NM_006617.2
p.R181P
c.542G>C
1 paper
NM_006617.2
p.V197_L204delFs
c.590_612del23
1 paper
NM_006617.2
p.R208H
c.623G>A
1 paper
NM_006617.2
p.E174G
c.521A>G
1 paper
NM_006617.2
p.E174*
c.520G>T
1 paper
NM_006617.2
p.P171S
c.511C>T
1 paper
NM_006617.2
p.R213Q
c.638G>A
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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."