Varaico: Literature-Extracted Genetic Variants

Gene:KRT86
Variant:p.E226G

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.E226G
c.677A>G
Surrounding Variants
1 paper
NM_001320198.2
p.E226Q
c.676G>C
1 paper
NM_001320198.2
p.L232L
c.694C>T
2 papers
NM_001320198.2
p.D216G
c.647A>G
1 paper
NM_001320198.2
p.D237A
c.710A>C
1 paper
NM_001320198.2
p.R241W
c.721C>T
6 papers
NM_001320198.2
p.V249I
c.745G>A
2 papers
NM_001320198.2
p.L250V
c.748C>G
1 paper
NM_001320198.2
p.S252F
c.755C>T
1 paper
NM_001320198.2
p.S252S
c.756C>G
1 paper
NM_001320198.2
p.D256Y
c.766G>T
2 papers
NM_001320198.2
p.L263del1
c.787_788delCTG
1 paper
NM_001320198.2
p.M271R
c.812T>G
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