Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G521C

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.G521C
c.1561G>T
Surrounding Variants
1 paper
NM_000424.4
p.G522_G523insFs
c.1566_1567ins8
1 paper
NM_000424.4
p.G522delFs
c.1564delC
1 paper
NM_000424.4
p.G519S
c.1555G>A
2 papers
NM_000424.4
p.G518S
c.1552G>A
1 paper
NM_000424.4
p.G517ins4
c.1550_1551ins12
1 paper
NM_000424.4
p.G517delFs
c.1549delC
2 papers
NM_000424.4
p.G517D
c.1550G>A
1 paper
NM_000424.4
p.A525G
c.1574C>G
1 paper
NM_000424.4
p.G517_A525del0
c.1550_1573del24
1 paper
NM_000424.4
p.G517_A525del9
c.1549_1574del27
1 paper
NM_000424.4
p.G514E
c.1541G>A
4 papers
NM_000424.4
p.S528G
c.1582A>G
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