Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.S271delFs

KRT83

108 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 2–107UCSCKeratin type II head
Filamentaa 110–421UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 83

HGNC Previous Symbol

KRTHB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002282.3
p.S271delFs
c.811delT
Surrounding Variants
2 papers
NM_002282.3
p.S271fs
c.811_812fs
2 papers
NM_002282.3
p.S271fs
c.811_812fs
1 paper
NM_002282.3
p.M276L
c.826A>C
2 papers
NM_002282.3
p.M276I
c.828G>T
2 papers
NM_002282.3
p.M276I
c.828G>C
2 papers
NM_002282.3
p.M276I
c.828G>A
4 papers
NM_002282.3
p.I279M
c.837C>G
1 paper
NM_002282.3
p.A281A
c.843C>T
1 paper
NM_002282.3
p.H258Y
c.772C>T
1 paper
NM_002282.3
p.H258N
c.772C>A
1 paper
NM_002282.3
p.E299V
c.896A>T
1 paper
NM_002282.3
p.W301C
c.903G>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."