Varaico: Literature-Extracted Genetic Variants

Gene:KRT84
Variant:p.I206V

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
2 papers
NM_033045.4
p.I206V
c.616A>G
Surrounding Variants
1 paper
NM_033045.4
p.N209N
c.627T>C
1 paper
NM_033045.4
p.S198N
c.593G>A
1 paper
NM_033045.4
p.R184L
c.551G>T
3 papers
NM_033045.4
p.R184Q
c.551G>A
1 paper
NM_033045.4
p.V183_R184delins
c.549_551delinsGCA
2 papers
NM_033045.4
p.R184W
c.550C>T
1 paper
NM_033045.4
p.V183V
c.549T>G
1 paper
NM_033045.4
p.S230S
c.690T>C
1 paper
NM_033045.4
p.D231H
c.691G>C
1 paper
NM_033045.4
p.R234Q
c.701G>A
1 paper
NM_033045.4
p.K252Splc
c.755+4A>T
1 paper
NM_033045.4
p.E285*
c.853G>T
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