Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.S584insFs

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.S584insFs
c.1751_1752insG
Surrounding Variants
1 paper
NM_000424.4
p.S584P
c.1750T>C
1 paper
NM_000424.4
p.R585R
c.1755G>A
1 paper
NM_000424.4
p.T580A
c.1738A>G
1 paper
NM_000424.4
p.S579F
c.1736C>T
1 paper
NM_000424.4
p.S579P
c.1735T>C
1 paper
NM_000424.4
p.F577Y
c.1730T>A
1 paper
NM_000424.4
p.*591S
c.1772A>C
1 paper
NM_000424.4
p.K576R
c.1727A>G
1 paper
NM_000424.4
p.K576T
c.1727A>C
1 paper
NM_000424.4
p.V575A
c.1724T>C
1 paper
NM_000424.4
p.G569R
c.1705G>C
1 paper
NM_000424.4
p.G569R
c.1705G>A
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