Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.R165W

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.R165W
c.493A>T
Surrounding Variants
1 paper
NM_000424.4
p.R165K
c.494G>A
1 paper
NM_000424.4
p.V164A
c.491T>C
10 papers
NM_000424.4
p.R165S
c.495G>T
10 papers
NM_000424.4
p.R165S
c.495G>C
1 paper
NM_000424.4
p.T166insFs
c.497dupC
2 papers
NM_000424.4
p.E167K
c.499G>A
1 paper
NM_000424.4
p.R163W
c.487A>T
1 paper
NM_000424.4
p.R163G
c.487A>G
1 paper
NM_000424.4
p.E167D
c.501G>T
1 paper
NM_000424.4
p.E168*
c.502G>T
3 papers
NM_000424.4
p.E168Q
c.502G>C
11 papers
NM_000424.4
p.E168K
c.502G>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."