Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L244V

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.L244V
c.730C>G
Surrounding Variants
2 papers
NM_000424.4
p.L244L
c.732G>A
1 paper
NM_000424.4
p.E243K
c.727G>A
1 paper
NM_000424.4
p.R245K
c.734G>A
1 paper
NM_000424.4
p.R245S
c.735A>T
1 paper
NM_000424.4
p.R245S
c.735A>C
1 paper
NM_000424.4
p.M247L
c.739A>T
1 paper
NM_000424.4
p.M247I
c.741G>T
1 paper
NM_000424.4
p.M247I
c.741G>C
1 paper
NM_000424.4
p.M247I
c.741G>A
1 paper
NM_000424.4
p.R239P
c.716G>C
1 paper
NM_000424.4
p.R239H
c.716G>A
2 papers
NM_000424.4
p.R239C
c.715C>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."