Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.N412Y

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.N412Y
c.1234A>T
Surrounding Variants
2 papers
NM_000424.4
p.N412H
c.1234A>C
1 paper
NM_000424.4
p.Q411del1
c.1231_1233delCTG
2 papers
NM_000424.4
p.A413T
c.1237G>A
1 paper
NM_000424.4
p.Q411*
c.1231C>T
1 paper
NM_000424.4
p.A413V
c.1238C>T
1 paper
NM_000424.4
p.L410V
c.1228C>G
1 paper
NM_000424.4
p.L410M
c.1228C>A
1 paper
NM_000424.4
p.A408V
c.1223C>T
1 paper
NM_000424.4
p.C407Y
c.1220G>A
1 paper
NM_000424.4
p.A417P
c.1249G>C
1 paper
NM_000424.4
p.Q406_C407Splc
c.1219-1G>A
1 paper
NM_000424.4
p.A417D
c.1250C>A
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