Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G124_G125del2

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.G124_G125del2
c.370_374del6
Surrounding Variants
1 paper
NM_000424.4
p.F127V
c.379T>G
1 paper
NM_000424.4
p.F127S
c.380T>C
1 paper
NM_000424.4
p.G126S
c.376G>A
2 papers
NM_000424.4
p.G128R
c.382G>C
1 paper
NM_000424.4
p.G125A
c.374G>C
2 papers
NM_000424.4
p.G125D
c.374G>A
1 paper
NM_000424.4
p.G128S
c.382G>A
1 paper
NM_000424.4
p.G124ins4
c.371_372ins12
1 paper
NM_000424.4
p.G124V
c.371G>T
1 paper
NM_000424.4
p.G129D
c.386G>A
1 paper
NM_000424.4
p.G128_G129del1
c.383_385delCAC
1 paper
NM_000424.4
p.G119C
c.355G>T
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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."