Varaico: Literature-Extracted Genetic Variants

Gene:KRT86
Variant:p.R33L

KRT86

125 papers

RefSeq Summary

This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mut...

Pfam Domains

Keratin_2_headaa 2–102UCSCKeratin type II head
Filamentaa 105–416UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 86

HGNC Previous Symbol

KRTHB6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001320198.2
p.R33L
c.98G>T
Surrounding Variants
1 paper
NM_001320198.2
p.G34S
c.100G>A
1 paper
NM_001320198.2
p.G34R
c.100G>C
1 paper
NM_001320198.2
p.G34C
c.100G>T
1 paper
NM_001320198.2
p.I35T
c.104T>C
1 paper
NM_001320198.2
p.A30fs
c.88_89fs
1 paper
NM_001320198.2
p.A30delFs
c.89delC
1 paper
NM_001320198.2
p.Y38F
c.113A>T
1 paper
NM_001320198.2
p.G43E
c.128G>A
1 paper
NM_001320198.2
p.G44V
c.131G>T
1 paper
NM_001320198.2
p.R21P
c.62G>C
1 paper
NM_001320198.2
p.F45_G46insFs
c.135_136insC
1 paper
NM_001320198.2
p.S16fs
c.46_47fs
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