Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E220delFs

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.E220delFs
c.658delC
Surrounding Variants
1 paper
NM_000424.4
p.F219F
c.657C>T
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.P217_L218insFs
c.651_652insTA
1 paper
NM_000424.4
p.P217L
c.650C>T
1 paper
NM_000424.4
p.E216insFs
c.646_647insTT
1 paper
NM_000424.4
p.N224K
c.672C>A
1 paper
NM_000424.4
p.N225T
c.674A>C
3 papers
NM_000424.4
p.L226insFs
c.676dupC
1 paper
NM_000424.4
p.L226L
c.678C>G
1 paper
NM_000424.4
p.Q213*
c.637C>T
1 paper
NM_000424.4
p.N224_R227del4
c.670_680del12
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."