Varaico: Literature-Extracted Genetic Variants

Gene:KRT82
Variant:p.V103D

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.V103D
c.308T>A
Surrounding Variants
2 papers
NM_033033.4
p.V103I
c.307G>A
1 paper
NM_033033.4
p.L105L
c.315G>A
1 paper
NM_033033.4
p.N98S
c.293A>G
1 paper
NM_033033.4
p.V95D
c.284T>A
1 paper
NM_033033.4
p.P111L
c.332C>T
1 paper
NM_033033.4
p.T112T
c.336T>C
1 paper
NM_033033.4
p.T93A
c.277A>G
3 papers
NM_033033.4
p.I92V
c.274A>G
1 paper
NM_033033.4
p.R81*
c.241C>T
1 paper
NM_033033.4
p.G79R
c.235G>C
1 paper
NM_033033.4
p.G79R
c.235G>A
2 papers
NM_033033.4
p.N129K
c.387C>G
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