Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
1 paper
NM_000424.4
p.M1L
c.1A>T
5 papers
NM_000424.4
p.M1R
c.2T>G
8 papers
NM_000424.4
p.M1T
c.2T>C
3 papers
NM_000424.4
p.M1K
c.2T>A
1 paper
NM_000424.4
p.M1delFs
c.1delT
2 papers
NM_000424.4
p.M1insFs
c.2dupT
1 paper
NM_000424.4
p.M1I
c.3G>C
3 papers
NM_000424.4
p.M1I
c.3G>A
1 paper
NM_000424.4
p.M1delFs
c.2delA
1 paper
NM_000424.4
p.S2C
c.5C>G
1 paper
NM_000424.4
p.S2Y
c.5C>A
1 paper
NM_000424.4
p.R3H
c.8G>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."