Varaico: Literature-Extracted Genetic Variants

Gene:KRT81
Variant:p.Q139P

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
2 papers
NM_002281.4
p.Q139P
c.416A>C
Surrounding Variants
1 paper
NM_002281.4
p.Q139K
c.415C>A
1 paper
NM_002281.4
p.E145K
c.433G>A
1 paper
NM_002281.4
p.N150K
c.450C>G
1 paper
NM_002281.4
p.N150K
c.450C>A
1 paper
NM_002281.4
p.K103K
c.309G>A
1 paper
NM_002281.4
p.A99T
c.295G>A
1 paper
NM_002281.4
p.T79S
c.236C>G
1 paper
NM_002281.4
p.T79S
c.235A>T
1 paper
NM_002281.4
p.R61C
c.181C>T
7 papers
NM_002281.4
p.G52R
c.154G>C
7 papers
NM_002281.4
p.G52R
c.154G>A
1 paper
NM_002281.4
p.S47N
c.140G>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."