Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.Y470insFs

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.Y470insFs
c.1409dupA
Surrounding Variants
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.Y470*
c.1410C>A
8 papers
NM_000424.4
p.R471C
c.1411C>T
1 paper
NM_000424.4
p.Y470C
c.1409A>G
1 paper
NM_000424.4
p.Y470H
c.1408T>C
10 papers
NM_000424.4
p.R471H
c.1412G>A
2 papers
NM_000424.4
p.T469S
c.1406C>G
5 papers
NM_000424.4
p.K472*
c.1414A>T
2 papers
NM_000424.4
p.T469S
c.1405A>T
2 papers
NM_000424.4
p.T469P
c.1405A>C
1 paper
NM_000424.4
p.L473P
c.1418T>C
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