Varaico: Literature-Extracted Genetic Variants

Gene:KRT86

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
1–12 of 88 variants
8 papers
NM_001320198.2
p.E413K
c.1237G>A
6 papers
NM_001320198.2
p.V249I
c.745G>A
6 papers
NM_001320198.2
p.E402K
c.1204G>A
5 papers
NM_001320198.2
p.Q139P
c.416A>C
3 papers
NM_001320198.2
p.G52R
c.154G>C
3 papers
NM_001320198.2
p.N114D
c.340A>G
3 papers
NM_001320198.2
p.A118E
c.353C>A
3 papers
NM_001320198.2
p.E402Q
c.1204G>C
3 papers
NM_001320198.2
p.R408H
c.1223G>A
3 papers
NM_001320198.2
p.E413D
c.1239G>C
3 papers
NM_001320198.2
p.E413D
c.1239G>T
2 papers
NM_001320198.2
p.G52R
c.154G>A
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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."