Varaico: Literature-Extracted Genetic Variants

Gene:KRT81
Variant:p.E402K

KRT81

115 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II...

Pfam Domains

Keratin_2_headaa 1–102UCSCKeratin type II head
Filamentaa 105–416UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 81

HGNC Previous Symbol

KRTHB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002281.4
p.E402K
c.1204G>A
Surrounding Variants
1 paper
NM_002281.4
p.E402Q
c.1204G>C
1 paper
NM_002281.4
p.T405I
c.1214C>T
1 paper
NM_002281.4
p.R408C
c.1222C>T
1 paper
NM_002281.4
p.G412G
c.1236C>T
2 papers
NM_002281.4
p.E413K
c.1237G>A
1 paper
NM_002281.4
p.E413D
c.1239G>T
1 paper
NM_002281.4
p.E413D
c.1239G>C
1 paper
NM_002281.4
p.A383V
c.1148C>T
2 papers
NM_002281.4
p.Q380Q
c.1140G>A
1 paper
NM_002281.4
p.Q376K
c.1126C>A
2 papers
NM_002281.4
p.A374T
c.1120G>A
1 paper
NM_002281.4
p.A359A
c.1077G>A
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