Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L456F

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.L456F
c.1366C>T
Surrounding Variants
1 paper
NM_000424.4
p.Q454_L456delins
c.1362_1366delinsAGCTGGTA
1 paper
NM_000424.4
p.E452K
c.1354G>A
2 papers
NM_000424.4
p.K460R
c.1379A>G
1 paper
NM_000424.4
p.L461P
c.1382T>C
1 paper
NM_000424.4
p.L450L
c.1348C>T
1 paper
NM_000424.4
p.L449L
c.1345C>T
12 papers
NM_000424.4
p.L463P
c.1388T>C
1 paper
NM_000424.4
p.R448R
c.1344G>A
1 paper
NM_000424.4
p.R448Q
c.1343G>A
1 paper
NM_000424.4
p.A447G
c.1340C>G
1 paper
NM_000424.4
p.A447D
c.1340C>A
1 paper
NM_000424.4
p.V465M
c.1393G>A
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