Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.Q347delFs

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.Q347delFs
c.1039delG
Surrounding Variants
1 paper
NM_002282.3
p.Q347fs
c.1039_1040fs
1 paper
NM_002282.3
p.Q347_N348Splc
c.1041+12C>T
1 paper
NM_002282.3
p.E340K
c.1018G>A
2 papers
NM_002282.3
p.N328N
c.984C>T
1 paper
NM_002282.3
p.R322H
c.965G>A
1 paper
NM_002282.3
p.L320R
c.959T>G
1 paper
NM_002282.3
p.G317E
c.950G>A
1 paper
NM_002282.3
p.K305_C306Splc
c.915+27T>G
1 paper
NM_002282.3
p.E352E
c.1056A>G
1 paper
NM_002282.3
p.A353A
c.1059T>C
1 paper
NM_002282.3
p.E352_A353delins
c.1056_1059delinsGGCC
1 paper
NM_002282.3
p.S304C
c.910A>T
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