Varaico: Literature-Extracted Genetic Variants

Gene:KRT85

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
1–12 of 82 variants
16 papers
NM_002283.4
p.R78H
c.233G>A
3 papers
NM_002283.4
p.C12R
c.34T>C
2 papers
NM_002283.4
p.Y39F
c.116A>T
2 papers
NM_002283.4
p.R180W
c.538C>T
2 papers
NM_002283.4
p.V200V
c.600G>A
2 papers
NM_002283.4
p.P483delFs
c.1448_1449delAG
1 paper
NM_002283.4
p.R4H
c.11G>A
1 paper
NM_002283.4
p.Y6N
c.16T>A
1 paper
NM_002283.4
p.Y6Y
c.18C>T
1 paper
NM_002283.4
p.I8V
c.22A>G
1 paper
NM_002283.4
p.S9R
c.25A>C
1 paper
NM_002283.4
p.S9R
c.27C>G
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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."