Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.V431V

KRT83

108 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 2–107UCSCKeratin type II head
Filamentaa 110–421UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 83

HGNC Previous Symbol

KRTHB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002282.3
p.V431V
c.1293C>T
Surrounding Variants
1 paper
NM_002282.3
p.G425D
c.1274G>A
1 paper
NM_002282.3
p.R437W
c.1309C>T
1 paper
NM_002282.3
p.G443R
c.1327G>C
1 paper
NM_002282.3
p.G443R
c.1327G>A
2 papers
NM_002282.3
p.D444D
c.1332T>C
2 papers
NM_002282.3
p.E418K
c.1252G>A
1 paper
NM_002282.3
p.L415R
c.1244T>G
1 paper
NM_002282.3
p.R413S
c.1237C>A
4 papers
NM_002282.3
p.E407K
c.1219G>A
5 papers
NM_002282.3
p.H493Y
c.1477C>T
1 paper
NM_002282.3
p.D368G
c.1103A>G
2 papers
NM_002282.3
p.A365D
c.1094C>A
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