Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.N430_K431ins9

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.N430_K431ins9
c.1290_1291ins27
Surrounding Variants
1 paper
NM_000424.4
p.N430_K431insFs
c.1290_1291ins8
1 paper
NM_000424.4
p.L432L
c.1294C>T
1 paper
NM_000424.4
p.L432V
c.1294C>G
1 paper
NM_000424.4
p.A433T
c.1297G>A
3 papers
NM_000424.4
p.A428V
c.1283C>T
3 papers
NM_000424.4
p.A428D
c.1283C>A
3 papers
NM_000424.4
p.A428T
c.1282G>A
1 paper
NM_000424.4
p.D427fs
c.1279_1280fs
1 paper
NM_000424.4
p.E434A
c.1301A>C
1 paper
NM_000424.4
p.E434_L435ins4
c.1302_1303ins12
1 paper
NM_000424.4
p.K426insFs
c.1276_1277dupAA
1 paper
NM_000424.4
p.L435insFs
c.1303_1304insT
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