Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.R559*

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
3 papers
NM_000424.4
p.R559*
c.1675C>T
Surrounding Variants
1 paper
NM_000424.4
p.G560A
c.1679G>C
1 paper
NM_000424.4
p.L561insFs
c.1682_1683ins14
1 paper
NM_000424.4
p.S556N
c.1667G>A
1 paper
NM_000424.4
p.S554ins4
c.1661_1662ins12
1 paper
NM_000424.4
p.A555T
c.1663G>A
1 paper
NM_000424.4
p.S554R
c.1662T>G
1 paper
NM_000424.4
p.S554R
c.1662T>A
1 paper
NM_000424.4
p.S554R
c.1660A>C
1 paper
NM_000424.4
p.F553delFs
c.1657delA
1 paper
NM_000424.4
p.G564G
c.1692C>A
1 paper
NM_000424.4
p.G552S
c.1654G>A
1 paper
NM_000424.4
p.G550delFs
c.1650delG
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