Varaico: Literature-Extracted Genetic Variants

Gene:KRT84
Variant:p.R475Q

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.R475Q
c.1424G>A
Surrounding Variants
1 paper
NM_033045.4
p.R475Q
c.1424G>A
1 paper
NM_033045.4
p.G471G
c.1413C>T
1 paper
NM_033045.4
p.E470G
c.1409A>G
1 paper
NM_033045.4
p.K455N
c.1365G>T
1 paper
NM_033045.4
p.K455N
c.1365G>C
2 papers
NM_033045.4
p.C446R
c.1336T>C
1 paper
NM_033045.4
p.R443Q
c.1328G>A
1 paper
NM_033045.4
p.R443W
c.1327C>T
1 paper
NM_033045.4
p.D422D
c.1266T>C
1 paper
NM_033045.4
p.G416G
c.1248C>T
1 paper
NM_033045.4
p.E413D
c.1239G>T
1 paper
NM_033045.4
p.E413D
c.1239G>C
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