Varaico: Literature-Extracted Genetic Variants

Gene:KRT81
Variant:p.I249V

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.I249V
c.745A>G
Surrounding Variants
2 papers
NM_002281.4
p.L248R
c.743T>G
1 paper
NM_002281.4
p.V261F
c.781G>T
1 paper
NM_002281.4
p.E277K
c.829G>A
4 papers
NM_002281.4
p.Y282*
c.846T>G
4 papers
NM_002281.4
p.Y282*
c.846T>A
1 paper
NM_002281.4
p.R288C
c.862C>T
1 paper
NM_002281.4
p.E292K
c.874G>A
1 paper
NM_002281.4
p.W296R
c.886T>C
1 paper
NM_002281.4
p.W296R
c.886T>A
1 paper
NM_002281.4
p.R298H
c.893G>A
1 paper
NM_002281.4
p.Q234*
c.700C>T
1 paper
NM_002281.4
p.K222K
c.666G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."