Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.S6N

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
1 paper
NM_000424.4
p.S6N
c.17G>A
Surrounding Variants
1 paper
NM_000424.4
p.S6I
c.17G>T
3 papers
NM_000424.4
p.V7A
c.20T>C
5 papers
NM_000424.4
p.S5*
c.14C>G
9 papers
NM_000424.4
p.S5*
c.14C>A
1 paper
NM_000424.4
p.Q4insFs
c.11_12insA
2 papers
NM_000424.4
p.Q4H
c.12G>C
2 papers
NM_000424.4
p.S8F
c.23C>T
1 paper
NM_000424.4
p.S8C
c.23C>G
1 paper
NM_000424.4
p.Q4delFs
c.10delG
8 papers
NM_000424.4
p.Q4*
c.10C>T
1 paper
NM_000424.4
p.R3H
c.8G>A
2 papers
NM_000424.4
p.R10G
c.28C>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."