Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L473P

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
1 paper
NM_000424.4
p.L473P
c.1418T>C
Surrounding Variants
2 papers
NM_000424.4
p.L473Q
c.1418T>A
1 paper
NM_000424.4
p.L474P
c.1421T>C
5 papers
NM_000424.4
p.K472*
c.1414A>T
8 papers
NM_000424.4
p.E475K
c.1423G>A
10 papers
NM_000424.4
p.R471H
c.1412G>A
18 papers
NM_000424.4
p.E475G
c.1424A>G
8 papers
NM_000424.4
p.R471C
c.1411C>T
1 paper
NM_000424.4
p.G476R
c.1426G>C
2 papers
NM_000424.4
p.G476S
c.1426G>A
2 papers
NM_000424.4
p.Y470*
c.1410C>G
1 paper
NM_000424.4
p.Y470_R471ins1
c.1410_1411insAGG
2 papers
NM_000424.4
p.Y470insFs
c.1409dupA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."