Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.N193K

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
14 papers
NM_000424.4
p.N193K
c.579C>A
Surrounding Variants
15 papers
NM_000424.4
p.N193K
c.579C>G
1 paper
NM_000424.4
p.K194N
c.582G>T
1 paper
NM_000424.4
p.K194N
c.582G>C
1 paper
NM_000424.4
p.V195F
c.583G>T
1 paper
NM_000424.4
p.Q192R
c.575A>G
3 papers
NM_000424.4
p.Q191P
c.572A>C
2 papers
NM_000424.4
p.L196P
c.587T>C
2 papers
NM_000424.4
p.E190D
c.570G>T
3 papers
NM_000424.4
p.E190D
c.570G>C
1 paper
NM_000424.4
p.L196L
c.588G>C
4 papers
NM_000424.4
p.E190K
c.568G>A
7 papers
NM_000424.4
p.D197E
c.591C>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."