Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G421R

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
3 papers
NM_000424.4
p.G421R
c.1261G>A
Surrounding Variants
3 papers
NM_000424.4
p.G421R
c.1261G>C
1 paper
NM_000424.4
p.G421V
c.1262G>T
1 paper
NM_000424.4
p.E422K
c.1264G>A
1 paper
NM_000424.4
p.R420C
c.1258C>T
1 paper
NM_000424.4
p.R420S
c.1258C>A
1 paper
NM_000424.4
p.Q419*
c.1255C>T
1 paper
NM_000424.4
p.E418D
c.1254G>C
1 paper
NM_000424.4
p.A424P
c.1270G>C
10 papers
NM_000424.4
p.E418K
c.1252G>A
1 paper
NM_000424.4
p.A424T
c.1270G>A
1 paper
NM_000424.4
p.A424V
c.1271C>T
1 paper
NM_000424.4
p.A417D
c.1250C>A
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