Varaico: Literature-Extracted Genetic Variants

Gene:KRT85
Variant:p.I8V

KRT85

102 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 66–119UCSCKeratin type II head
Filamentaa 122–433UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 85

HGNC Previous Symbol

KRTHB5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002283.4
p.I8V
c.22A>G
Surrounding Variants
1 paper
NM_002283.4
p.S9R
c.25A>C
1 paper
NM_002283.4
p.Y6Y
c.18C>T
1 paper
NM_002283.4
p.S9R
c.27C>G
1 paper
NM_002283.4
p.S9R
c.27C>A
1 paper
NM_002283.4
p.S10P
c.28T>C
1 paper
NM_002283.4
p.Y6N
c.16T>A
1 paper
NM_002283.4
p.S10L
c.29C>T
1 paper
NM_002283.4
p.G11A
c.32G>C
1 paper
NM_002283.4
p.R4H
c.11G>A
3 papers
NM_002283.4
p.C12R
c.34T>C
1 paper
NM_002283.4
p.G13R
c.37G>C
1 paper
NM_002283.4
p.G13R
c.37G>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."