Varaico: Literature-Extracted Genetic Variants

Gene:KRT84
Variant:p.V563D

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.V563D
c.1688T>A
Surrounding Variants
1 paper
NM_033045.4
p.R588H
c.1763G>A
1 paper
NM_033045.4
p.S595F
c.1784C>T
1 paper
NM_033045.4
p.S529F
c.1586C>T
1 paper
NM_033045.4
p.G504S
c.1510G>A
1 paper
NM_033045.4
p.R475Q
c.1424G>A
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."