Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L175F

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.L175F
c.523C>T
Surrounding Variants
1 paper
NM_000424.4
p.L175R
c.524T>G
1 paper
NM_000424.4
p.L175P
c.524T>C
8 papers
NM_000424.4
p.K173N
c.519G>T
7 papers
NM_000424.4
p.K173N
c.519G>C
1 paper
NM_000424.4
p.N176I
c.527A>T
21 papers
NM_000424.4
p.N176S
c.527A>G
1 paper
NM_000424.4
p.N176K
c.528C>G
1 paper
NM_000424.4
p.N176K
c.528C>A
1 paper
NM_000424.4
p.K173_L175del0
c.517_525del9
1 paper
NM_000424.4
p.K173R
c.518A>G
2 papers
NM_000424.4
p.N177D
c.529A>G
9 papers
NM_000424.4
p.N177S
c.530A>G
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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."