Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.G49S

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
1 paper
NM_002282.3
p.G49S
c.145G>A
Surrounding Variants
1 paper
NM_002282.3
p.G49R
c.145G>C
1 paper
NM_002282.3
p.G48G
c.144G>A
1 paper
NM_002282.3
p.F50Y
c.149T>A
1 paper
NM_002282.3
p.C56S
c.166T>A
1 paper
NM_002282.3
p.I40N
c.119T>A
1 paper
NM_002282.3
p.A35D
c.104C>A
1 paper
NM_002282.3
p.S67R
c.199A>C
1 paper
NM_002282.3
p.S67R
c.201C>G
1 paper
NM_002282.3
p.S67R
c.201C>A
2 papers
NM_002282.3
p.G69S
c.205G>A
1 paper
NM_002282.3
p.G24delFs
c.72delC
1 paper
NM_002282.3
p.G24R
c.70G>C
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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."