Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.S536S

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.S536S
c.1608C>T
Surrounding Variants
1 paper
NM_000424.4
p.S531_S535delins
c.1593_1603delinsACGGCATC
1 paper
NM_000424.4
p.G541S
c.1621G>A
3 papers
NM_000424.4
p.G543S
c.1627G>A
1 paper
NM_000424.4
p.G544V
c.1631G>T
4 papers
NM_000424.4
p.S528G
c.1582A>G
2 papers
NM_000424.4
p.L546I
c.1636C>A
3 papers
NM_000424.4
p.G545delFs
c.1635delC
1 paper
NM_000424.4
p.L546L
c.1638C>A
1 paper
NM_000424.4
p.G517_A525del9
c.1549_1574del27
3 papers
NM_000424.4
p.L546_S547delFs
c.1638_1641del4
1 paper
NM_000424.4
p.A525G
c.1574C>G
1 paper
NM_000424.4
p.G517_A525del0
c.1550_1573del24
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