Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E142G

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.E142G
c.425A>G
Surrounding Variants
1 paper
NM_000424.4
p.E142K
c.424G>A
4 papers
NM_000424.4
p.V143F
c.427G>T
1 paper
NM_000424.4
p.G138_E142delFs
c.413_425del13
8 papers
NM_000424.4
p.V143A
c.428T>C
4 papers
NM_000424.4
p.V143D
c.428T>A
4 papers
NM_000424.4
p.I140fs
c.418_419fs
15 papers
NM_000424.4
p.I140insFs
c.418dupA
6 papers
NM_000424.4
p.I140fs
c.418_419fs
1 paper
NM_000424.4
p.V145A
c.434T>C
1 paper
NM_000424.4
p.V145D
c.434T>A
1 paper
NM_000424.4
p.G139R
c.415G>C
2 papers
NM_000424.4
p.N146Y
c.436A>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."