Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E168Q

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
3 papers
NM_000424.4
p.E168Q
c.502G>C
Surrounding Variants
1 paper
NM_000424.4
p.E168*
c.502G>T
11 papers
NM_000424.4
p.E168K
c.502G>A
1 paper
NM_000424.4
p.E167D
c.501G>T
2 papers
NM_000424.4
p.E168G
c.503A>G
6 papers
NM_000424.4
p.E168D
c.504G>T
6 papers
NM_000424.4
p.E168D
c.504G>C
1 paper
NM_000424.4
p.T166_E168delFs
c.497_503del7
1 paper
NM_000424.4
p.T166insFs
c.497dupC
2 papers
NM_000424.4
p.E167K
c.499G>A
3 papers
NM_000424.4
p.R169G
c.505C>G
2 papers
NM_000424.4
p.R169P
c.506G>C
1 paper
NM_000424.4
p.R169H
c.506G>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."