Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.A424V

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.A424V
c.1271C>T
Surrounding Variants
1 paper
NM_000424.4
p.A424P
c.1270G>C
1 paper
NM_000424.4
p.A424T
c.1270G>A
1 paper
NM_000424.4
p.A413_L425del13
c.1237_1274del39
1 paper
NM_000424.4
p.K426insFs
c.1276_1277dupAA
1 paper
NM_000424.4
p.E422K
c.1264G>A
1 paper
NM_000424.4
p.G421V
c.1262G>T
1 paper
NM_000424.4
p.D427fs
c.1279_1280fs
3 papers
NM_000424.4
p.G421R
c.1261G>C
3 papers
NM_000424.4
p.G421R
c.1261G>A
3 papers
NM_000424.4
p.A428T
c.1282G>A
3 papers
NM_000424.4
p.A428V
c.1283C>T
3 papers
NM_000424.4
p.A428D
c.1283C>A
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