Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E475G

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
18 papers
NM_000424.4
p.E475G
c.1424A>G
Surrounding Variants
8 papers
NM_000424.4
p.E475K
c.1423G>A
1 paper
NM_000424.4
p.G476R
c.1426G>C
2 papers
NM_000424.4
p.G476S
c.1426G>A
1 paper
NM_000424.4
p.L474P
c.1421T>C
10 papers
NM_000424.4
p.G476D
c.1427G>A
5 papers
NM_000424.4
p.E477*
c.1429G>T
38 papers
NM_000424.4
p.E477K
c.1429G>A
1 paper
NM_000424.4
p.L473P
c.1418T>C
2 papers
NM_000424.4
p.L473Q
c.1418T>A
6 papers
NM_000424.4
p.E477G
c.1430A>G
7 papers
NM_000424.4
p.E477D
c.1431G>T
1 paper
NM_000424.4
p.E477ins2
c.1430_1431ins6
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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."