Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.P25L

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
70 papers
NM_000424.4
p.P25L
c.74C>T
Surrounding Variants
1 paper
NM_000424.4
p.T24Fs
c.71delinsCCTFs
1 paper
NM_000424.4
p.T24I
c.71C>T
1 paper
NM_000424.4
p.A20_T24delFs
c.58_70del13
2 papers
NM_000424.4
p.V27I
c.79G>A
1 paper
NM_000424.4
p.A22G
c.65C>G
1 paper
NM_000424.4
p.S28_R29insFs
c.84_85insT
1 paper
NM_000424.4
p.R29_T30ins11
c.85_89ins33
2 papers
NM_000424.4
p.R29H
c.86G>A
1 paper
NM_000424.4
p.S21F
c.62C>T
1 paper
NM_000424.4
p.R29R
c.87C>A
1 paper
NM_000424.4
p.A20A
c.60C>G
1 paper
NM_000424.4
p.A20A
c.60C>A
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