Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G568delFs

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.G568delFs
c.1703delC
Surrounding Variants
1 paper
NM_000424.4
p.G568ins2
c.1703_1704ins6
1 paper
NM_000424.4
p.G568fs
c.1702_1703fs
1 paper
NM_000424.4
p.G568V
c.1703G>T
1 paper
NM_000424.4
p.G569R
c.1705G>C
1 paper
NM_000424.4
p.G569R
c.1705G>A
1 paper
NM_000424.4
p.G568D
c.1703G>A
1 paper
NM_000424.4
p.G568C
c.1702G>T
1 paper
NM_000424.4
p.G564G
c.1692C>A
1 paper
NM_000424.4
p.V575A
c.1724T>C
1 paper
NM_000424.4
p.L561insFs
c.1682_1683ins14
1 paper
NM_000424.4
p.K576R
c.1727A>G
1 paper
NM_000424.4
p.K576T
c.1727A>C
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