Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L117F

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.L117F
c.349C>T
Surrounding Variants
1 paper
NM_000424.4
p.L117V
c.349C>G
3 papers
NM_000424.4
p.G116G
c.348G>C
1 paper
NM_000424.4
p.G116insFs
c.347_348ins14
1 paper
NM_000424.4
p.F115S
c.344T>C
1 paper
NM_000424.4
p.G119C
c.355G>T
1 paper
NM_000424.4
p.G113D
c.338G>A
4 papers
NM_000424.4
p.G113C
c.337G>T
1 paper
NM_000424.4
p.G112ins1
c.335_336insCGG
1 paper
NM_000424.4
p.A111delFs
c.331delC
2 papers
NM_000424.4
p.A111fs
c.331_332fs
1 paper
NM_000424.4
p.G124V
c.371G>T
1 paper
NM_000424.4
p.G124ins4
c.371_372ins12
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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."