Varaico: Literature-Extracted Genetic Variants

Gene:KRT82
Variant:p.R187C

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
1 paper
NM_033033.4
p.R187C
c.559C>T
Surrounding Variants
1 paper
NM_033033.4
p.G185V
c.554G>T
1 paper
NM_033033.4
p.V188fs
c.562_563fs
2 papers
NM_033033.4
p.E191Q
c.571G>C
1 paper
NM_033033.4
p.E193_C195del3
c.577_584del9
1 paper
NM_033033.4
p.A175T
c.523G>A
1 paper
NM_033033.4
p.E202G
c.605A>G
1 paper
NM_033033.4
p.E170Q
c.508G>C
1 paper
NM_033033.4
p.E149A
c.446A>C
1 paper
NM_033033.4
p.K144T
c.431A>C
1 paper
NM_033033.4
p.V138I
c.412G>A
1 paper
NM_033033.4
p.K207Splc
c.620+163C>T
2 papers
NM_033033.4
p.N129K
c.387C>G
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