Varaico: Literature-Extracted Genetic Variants

Gene:KRT83

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
1–12 of 85 variants
5 papers
NM_002282.3
p.H493Y
c.1477C>T
4 papers
NM_002282.3
p.E201*
c.601G>T
4 papers
NM_002282.3
p.C222*
c.666C>A
4 papers
NM_002282.3
p.S271delFs
c.811delT
4 papers
NM_002282.3
p.I279M
c.837C>G
4 papers
NM_002282.3
p.E407K
c.1219G>A
2 papers
NM_002282.3
p.C19S
c.55T>A
2 papers
NM_002282.3
p.G69S
c.205G>A
2 papers
NM_002282.3
p.E202A
c.605A>C
2 papers
NM_002282.3
p.S271fs
c.811_812fs
2 papers
NM_002282.3
p.S271fs
c.811_812fs
2 papers
NM_002282.3
p.M276I
c.828G>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."