Varaico: Literature-Extracted Genetic Variants

Gene:KRT86
Variant:p.E402D

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.E402D
c.1206G>T
Surrounding Variants
1 paper
NM_001320198.2
p.E402D
c.1206G>C
6 papers
NM_001320198.2
p.E402K
c.1204G>A
3 papers
NM_001320198.2
p.E402Q
c.1204G>C
3 papers
NM_001320198.2
p.R408H
c.1223G>A
1 paper
NM_001320198.2
p.R408P
c.1223G>C
2 papers
NM_001320198.2
p.L409P
c.1226T>C
1 paper
NM_001320198.2
p.L410P
c.1229T>C
1 paper
NM_001320198.2
p.E411*
c.1231G>T
1 paper
NM_001320198.2
p.M393I
c.1179G>A
1 paper
NM_001320198.2
p.M393I
c.1179G>C
1 paper
NM_001320198.2
p.M393I
c.1179G>T
8 papers
NM_001320198.2
p.E413K
c.1237G>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."