Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.D158V

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
5 papers
NM_000424.4
p.D158V
c.473A>T
Surrounding Variants
4 papers
NM_000424.4
p.D158Y
c.472G>T
2 papers
NM_000424.4
p.D158N
c.472G>A
5 papers
NM_000424.4
p.P159L
c.476C>T
1 paper
NM_000424.4
p.P159R
c.476C>G
1 paper
NM_000424.4
p.S160G
c.478A>G
1 paper
NM_000424.4
p.S160insFs
c.478_479insC
1 paper
NM_000424.4
p.S160fs
c.478_479fs
18 papers
NM_000424.4
p.I161S
c.482T>G
5 papers
NM_000424.4
p.L155P
c.464T>C
1 paper
NM_000424.4
p.L155L
c.463C>T
1 paper
NM_000424.4
p.N154S
c.461A>G
1 paper
NM_000424.4
p.R163W
c.487A>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."