Varaico: Literature-Extracted Genetic Variants

Gene:KRT81
Variant:p.Q330Q

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.Q330Q
c.990A>G
Surrounding Variants
1 paper
NM_002281.4
p.T333M
c.998C>T
1 paper
NM_002281.4
p.E337*
c.1009G>T
2 papers
NM_002281.4
p.N323N
c.969T>C
1 paper
NM_002281.4
p.E320D
c.960G>T
1 paper
NM_002281.4
p.E320D
c.960G>C
1 paper
NM_002281.4
p.R316C
c.946C>T
1 paper
NM_002281.4
p.R298H
c.893G>A
1 paper
NM_002281.4
p.A359A
c.1077G>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.E292K
c.874G>A
1 paper
NM_002281.4
p.R288C
c.862C>T
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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."