Varaico: Literature-Extracted Genetic Variants

Gene:KRT84
Variant:p.T138R

KRT84

106 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 16–161UCSCKeratin type II head
Filamentaa 164–475UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 84

HGNC Previous Symbol

KRTHB4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033045.4
p.T138R
c.413C>G
Surrounding Variants
1 paper
NM_033045.4
p.T141T
c.423T>C
1 paper
NM_033045.4
p.G130delins
c.390delinsG
1 paper
NM_033045.4
p.G130A
c.389G>C
1 paper
NM_033045.4
p.G128A
c.383G>C
1 paper
NM_033045.4
p.F122V
c.364T>G
3 papers
NM_033045.4
p.G121D
c.362G>A
1 paper
NM_033045.4
p.F117L
c.351T>A
1 paper
NM_033045.4
p.D164A
c.491A>C
1 paper
NM_033045.4
p.L105P
c.314T>C
1 paper
NM_033045.4
p.D100insFs
c.298_299ins23
1 paper
NM_033045.4
p.D100fs
c.298_299fs
3 papers
NM_033045.4
p.D181Y
c.541G>T
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