Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.S14fs

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
2 papers
NM_000424.4
p.S14fs
c.40_41fs
Surrounding Variants
2 papers
NM_000424.4
p.G13insFs
c.38dupG
2 papers
NM_000424.4
p.S14fs
c.40_41fs
1 paper
NM_000424.4
p.G13fs
c.37_38fs
1 paper
NM_000424.4
p.R15P
c.44G>C
1 paper
NM_000424.4
p.R15H
c.44G>A
1 paper
NM_000424.4
p.G12V
c.35G>T
1 paper
NM_000424.4
p.S16T
c.47G>C
1 paper
NM_000424.4
p.S16N
c.47G>A
1 paper
NM_000424.4
p.S16fs
c.46_47fs
1 paper
NM_000424.4
p.R10L
c.29G>T
1 paper
NM_000424.4
p.R10insFs
c.29_30ins11
2 papers
NM_000424.4
p.R10G
c.28C>G
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."