Varaico: Literature-Extracted Genetic Variants

Gene:KRT82
Variant:p.L246P

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.L246P
c.737T>C
Surrounding Variants
1 paper
NM_033033.4
p.E244K
c.730G>A
1 paper
NM_033033.4
p.I268T
c.803T>C
1 paper
NM_033033.4
p.S272*
c.815C>A
1 paper
NM_033033.4
p.A294V
c.881C>T
1 paper
NM_033033.4
p.R302H
c.905G>A
1 paper
NM_033033.4
p.A305A
c.915C>T
1 paper
NM_033033.4
p.Y311C
c.932A>G
1 paper
NM_033033.4
p.R314W
c.940C>T
1 paper
NM_033033.4
p.R314G
c.940C>G
1 paper
NM_033033.4
p.R314Q
c.941G>A
1 paper
NM_033033.4
p.E211*
c.631G>T
1 paper
NM_033033.4
p.K207Splc
c.620+163C>T
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