Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.Q206R

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
2 papers
NM_000424.4
p.Q206R
c.617A>G
Surrounding Variants
1 paper
NM_000424.4
p.Q206P
c.617A>C
1 paper
NM_000424.4
p.E205D
c.615G>T
1 paper
NM_000424.4
p.E205D
c.615G>C
1 paper
NM_000424.4
p.E205E
c.615G>A
1 paper
NM_000424.4
p.E205K
c.613G>A
1 paper
NM_000424.4
p.T208S
c.622A>T
1 paper
NM_000424.4
p.T208delFs
c.622delT
1 paper
NM_000424.4
p.Q204R
c.611A>G
4 papers
NM_000424.4
p.L203P
c.608T>C
1 paper
NM_000424.4
p.K209T
c.626A>C
1 paper
NM_000424.4
p.L203M
c.607C>A
4 papers
NM_000424.4
p.L202P
c.605T>C
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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."