Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G59R

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.G59R
c.175G>C
Surrounding Variants
1 paper
NM_000424.4
p.G59D
c.176G>A
1 paper
NM_000424.4
p.V57G
c.170T>G
1 paper
NM_000424.4
p.G61S
c.181G>A
1 paper
NM_000424.4
p.S62C
c.184A>T
1 paper
NM_000424.4
p.S62R
c.184A>C
1 paper
NM_000424.4
p.S62T
c.185G>C
1 paper
NM_000424.4
p.S62N
c.185G>A
1 paper
NM_000424.4
p.S62R
c.186C>G
1 paper
NM_000424.4
p.S62R
c.186C>A
2 papers
NM_000424.4
p.R63Q
c.188G>A
1 paper
NM_000424.4
p.G53D
c.158G>A
1 paper
NM_000424.4
p.G53R
c.157G>C
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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."