Varaico: Literature-Extracted Genetic Variants

Gene:KRT82
Variant:p.R496W

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.R496W
c.1486C>T
Surrounding Variants
1 paper
NM_033033.4
p.R496Q
c.1487G>A
1 paper
NM_033033.4
p.S507T
c.1520G>C
4 papers
NM_033033.4
p.T458M
c.1373C>T
1 paper
NM_033033.4
p.G436W
c.1306G>T
2 papers
NM_033033.4
p.G436R
c.1306G>C
2 papers
NM_033033.4
p.G436R
c.1306G>A
3 papers
NM_033033.4
p.C432W
c.1296C>G
1 paper
NM_033033.4
p.L400H
c.1199T>A
1 paper
NM_033033.4
p.L382M
c.1144C>A
3 papers
NM_033033.4
p.E351K
c.1051G>A
1 paper
NM_033033.4
p.R345Q
c.1034G>A
1 paper
NM_033033.4
p.K333R
c.998A>G
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