Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.K199R

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
4 papers
NM_000424.4
p.K199R
c.596A>G
Surrounding Variants
4 papers
NM_000424.4
p.K199M
c.596A>T
5 papers
NM_000424.4
p.K199T
c.596A>C
3 papers
NM_000424.4
p.K199N
c.597G>T
3 papers
NM_000424.4
p.K199N
c.597G>C
2 papers
NM_000424.4
p.W200R
c.598T>C
2 papers
NM_000424.4
p.W200R
c.598T>A
3 papers
NM_000424.4
p.T198T
c.594C>T
1 paper
NM_000424.4
p.T198T
c.594C>A
1 paper
NM_000424.4
p.D197_T198delins
c.591_594delinsAACA
1 paper
NM_000424.4
p.T198I
c.593C>T
2 papers
NM_000424.4
p.T198S
c.593C>G
2 papers
NM_000424.4
p.T198S
c.592A>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."