Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G235R

KRT5

514 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 16–164UCSCKeratin type II head
Filamentaa 167–480UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 5

HGNC Previous Symbol

EBS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000424.4
p.G235R
c.703G>A
Surrounding Variants
1 paper
NM_000424.4
p.G235R
c.703G>C
1 paper
NM_000424.4
p.G235V
c.704G>T
1 paper
NM_000424.4
p.G235A
c.704G>C
1 paper
NM_000424.4
p.R237G
c.709C>G
1 paper
NM_000424.4
p.R237R
c.711G>T
1 paper
NM_000424.4
p.S232N
c.695G>A
1 paper
NM_000424.4
p.G238S
c.712G>A
2 papers
NM_000424.4
p.R239C
c.715C>T
1 paper
NM_000424.4
p.R239P
c.716G>C
1 paper
NM_000424.4
p.R239H
c.716G>A
1 paper
NM_000424.4
p.N224_R227del4
c.670_680del12
1 paper
NM_000424.4
p.E243K
c.727G>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."