Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.P217L

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.P217L
c.650C>T
Surrounding Variants
1 paper
NM_000424.4
p.P217_L218insFs
c.651_652insTA
1 paper
NM_000424.4
p.E216insFs
c.646_647insTT
1 paper
NM_000424.4
p.F219F
c.657C>T
1 paper
NM_000424.4
p.E220delFs
c.658delC
1 paper
NM_000424.4
p.E220delFs
c.658_659delTC
1 paper
NM_000424.4
p.Q221L
c.662A>T
1 paper
NM_000424.4
p.Q213*
c.637C>T
1 paper
NM_000424.4
p.V211E
c.632T>A
2 papers
NM_000424.4
p.T210T
c.630T>C
1 paper
NM_000424.4
p.N224K
c.672C>A
1 paper
NM_000424.4
p.N225T
c.674A>C
1 paper
NM_000424.4
p.K209T
c.626A>C
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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."