Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G550fs

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.G550fs
c.1648_1649fs
Surrounding Variants
1 paper
NM_000424.4
p.G550A
c.1649G>C
1 paper
NM_000424.4
p.G549A
c.1646G>C
1 paper
NM_000424.4
p.G550delins
c.1650delinsT
1 paper
NM_000424.4
p.G550fs
c.1648_1649fs
23 papers
NM_000424.4
p.G550delFs
c.1649delC
1 paper
NM_000424.4
p.G550delFs
c.1650delG
1 paper
NM_000424.4
p.G552S
c.1654G>A
3 papers
NM_000424.4
p.L546_S547delFs
c.1638_1641del4
1 paper
NM_000424.4
p.L546L
c.1638C>A
1 paper
NM_000424.4
p.F553delFs
c.1657delA
2 papers
NM_000424.4
p.L546I
c.1636C>A
3 papers
NM_000424.4
p.G545delFs
c.1635delC
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