Varaico: Literature-Extracted Genetic Variants

Gene:KRT82
Variant:p.R47*

KRT82

84 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 60–116UCSCKeratin type II head
Filamentaa 119–430UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 82

HGNC Previous Symbol

KRTHB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_033033.4
p.R47*
c.139C>T
Surrounding Variants
1 paper
NM_033033.4
p.R55W
c.163C>T
1 paper
NM_033033.4
p.R39W
c.115C>T
1 paper
NM_033033.4
p.P37T
c.109C>A
1 paper
NM_033033.4
p.N59Y
c.175A>T
1 paper
NM_033033.4
p.V60M
c.178G>A
1 paper
NM_033033.4
p.Y31*
c.93T>A
1 paper
NM_033033.4
p.V28D
c.83T>A
1 paper
NM_033033.4
p.P65del1
c.193_195delGGG
2 papers
NM_033033.4
p.R26Q
c.77G>A
1 paper
NM_033033.4
p.A68T
c.202G>A
1 paper
NM_033033.4
p.V23L
c.67G>C
1 paper
NM_033033.4
p.A22delFs
c.65delG
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