Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E466D

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.E466D
c.1398G>C
Surrounding Variants
2 papers
NM_000424.4
p.E466D
c.1398G>T
2 papers
NM_000424.4
p.I467F
c.1399A>T
1 paper
NM_000424.4
p.E466G
c.1397A>G
3 papers
NM_000424.4
p.I467L
c.1399A>C
9 papers
NM_000424.4
p.I467T
c.1400T>C
1 paper
NM_000424.4
p.E466Q
c.1396G>C
5 papers
NM_000424.4
p.I467M
c.1401C>G
1 paper
NM_000424.4
p.A468S
c.1402G>T
1 paper
NM_000424.4
p.V465M
c.1393G>A
2 papers
NM_000424.4
p.T469S
c.1405A>T
2 papers
NM_000424.4
p.T469P
c.1405A>C
2 papers
NM_000424.4
p.T469S
c.1406C>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."