Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E190K

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
4 papers
NM_000424.4
p.E190K
c.568G>A
Surrounding Variants
2 papers
NM_000424.4
p.E190D
c.570G>T
3 papers
NM_000424.4
p.E190D
c.570G>C
3 papers
NM_000424.4
p.Q191P
c.572A>C
1 paper
NM_000424.4
p.Q192R
c.575A>G
1 paper
NM_000424.4
p.R187P
c.560G>C
1 paper
NM_000424.4
p.R187Q
c.560G>A
2 papers
NM_000424.4
p.V186E
c.557T>A
15 papers
NM_000424.4
p.N193K
c.579C>G
14 papers
NM_000424.4
p.N193K
c.579C>A
16 papers
NM_000424.4
p.V186L
c.556G>T
16 papers
NM_000424.4
p.V186L
c.556G>C
7 papers
NM_000424.4
p.V186M
c.556G>A
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."