Varaico: Literature-Extracted Genetic Variants

Gene:NES
Variant:p.V516A

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.V516A
c.1547T>C
Surrounding Variants
1 paper
NM_006617.2
p.V515M
c.1543G>A
1 paper
NM_006617.2
p.A510T
c.1528G>A
1 paper
NM_006617.2
p.G503R
c.1507G>C
1 paper
NM_006617.2
p.G503R
c.1507G>A
1 paper
NM_006617.2
p.Q500K
c.1498C>A
2 papers
NM_006617.2
p.G499G
c.1497G>C
1 paper
NM_006617.2
p.I534L
c.1600A>C
2 papers
NM_006617.2
p.G495R
c.1483G>C
1 paper
NM_006617.2
p.S491R
c.1473C>G
1 paper
NM_006617.2
p.G485S
c.1453G>A
1 paper
NM_006617.2
p.E551*
c.1651G>T
1 paper
NM_006617.2
p.S471I
c.1412G>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."