Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.T19I

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.T19I
c.56C>T
Surrounding Variants
1 paper
NM_000424.4
p.T19S
c.56C>G
1 paper
NM_000424.4
p.A20S
c.58G>T
1 paper
NM_000424.4
p.A20T
c.58G>A
1 paper
NM_000424.4
p.S18delins
c.53delinsA
1 paper
NM_000424.4
p.A20ins1
c.59_60insGTA
1 paper
NM_000424.4
p.A20A
c.60C>G
1 paper
NM_000424.4
p.A20A
c.60C>A
1 paper
NM_000424.4
p.S21F
c.62C>T
1 paper
NM_000424.4
p.S16fs
c.46_47fs
1 paper
NM_000424.4
p.S16T
c.47G>C
1 paper
NM_000424.4
p.S16N
c.47G>A
1 paper
NM_000424.4
p.A22G
c.65C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."