Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.A180D

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.A180D
c.539C>A
Surrounding Variants
2 papers
NM_000424.4
p.A180V
c.539C>T
7 papers
NM_000424.4
p.A180P
c.538G>C
1 paper
NM_000424.4
p.F179L
c.537T>G
14 papers
NM_000424.4
p.S181P
c.541T>C
1 paper
NM_000424.4
p.F179L
c.537T>A
11 papers
NM_000424.4
p.F179S
c.536T>C
1 paper
NM_000424.4
p.F179L
c.535T>C
2 papers
NM_000424.4
p.N177del1
c.529_530delATT
2 papers
NM_000424.4
p.F182S
c.545T>C
5 papers
NM_000424.4
p.I183F
c.547A>T
3 papers
NM_000424.4
p.I183V
c.547A>G
7 papers
NM_000424.4
p.I183T
c.548T>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."