Varaico: Literature-Extracted Genetic Variants

Gene:KRT84
Variant:p.E285*

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.E285*
c.853G>T
Surrounding Variants
1 paper
NM_033045.4
p.L308S
c.923T>C
1 paper
NM_033045.4
p.Q310*
c.928C>T
1 paper
NM_033045.4
p.V337V
c.1011C>T
1 paper
NM_033045.4
p.K252Splc
c.755+4A>T
1 paper
NM_033045.4
p.R347H
c.1040G>A
1 paper
NM_033045.4
p.R349Q
c.1046G>A
1 paper
NM_033045.4
p.A352T
c.1054G>A
1 paper
NM_033045.4
p.W355*
c.1064G>A
1 paper
NM_033045.4
p.W355*
c.1065G>A
1 paper
NM_033045.4
p.R234Q
c.701G>A
1 paper
NM_033045.4
p.D231H
c.691G>C
1 paper
NM_033045.4
p.S230S
c.690T>C
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