Varaico: Literature-Extracted Genetic Variants

Gene:KRT5

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
1–12 of 688 variants
70 papers
NM_000424.4
p.P25L
c.74C>T
38 papers
NM_000424.4
p.E477K
c.1429G>A
24 papers
NM_000424.4
p.E170K
c.508G>A
23 papers
NM_000424.4
p.G550delFs
c.1649delC
21 papers
NM_000424.4
p.N176S
c.527A>G
20 papers
NM_000424.4
p.G138E
c.413G>A
18 papers
NM_000424.4
p.I161S
c.482T>G
18 papers
NM_000424.4
p.E475G
c.1424A>G
16 papers
NM_000424.4
p.V186L
c.556G>T
16 papers
NM_000424.4
p.V186L
c.556G>C
15 papers
NM_000424.4
p.I140insFs
c.418dupA
15 papers
NM_000424.4
p.N193K
c.579C>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."