Varaico: Literature-Extracted Genetic Variants

Gene:KRT81
Variant:p.P31delFs

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
1 paper
NM_002281.4
p.P31delFs
c.93delG
Surrounding Variants
1 paper
NM_002281.4
p.P31fs
c.91_92fs
1 paper
NM_002281.4
p.G34V
c.101G>T
1 paper
NM_002281.4
p.Y38C
c.113A>G
1 paper
NM_002281.4
p.R24L
c.71G>T
1 paper
NM_002281.4
p.R24P
c.71G>C
1 paper
NM_002281.4
p.P22P
c.66C>A
1 paper
NM_002281.4
p.S16fs
c.46_47fs
1 paper
NM_002281.4
p.S47N
c.140G>A
1 paper
NM_002281.4
p.S16W
c.47C>G
2 papers
NM_002281.4
p.S13R
c.39C>G
2 papers
NM_002281.4
p.S13R
c.39C>A
2 papers
NM_002281.4
p.S13R
c.37A>C
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