Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.K32R

PARK7

1,146 papers

RefSeq Summary

The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaper...

Pfam Domains

DJ-1_PfpIaa 4–171UCSCDJ-1/PfpI family

Gene Aliases

HGNC Name

Parkinsonism associated deglycase

HGNC Alias Symbols

DJ-1; DJ1; GATD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007262.5
p.K32R
c.95A>G
Surrounding Variants
1 paper
NM_007262.5
p.K32T
c.95A>C
1 paper
NM_007262.5
p.K32delins
c.95delinsGCGC
2 papers
NM_007262.5
p.K32E
c.94A>G
1 paper
NM_007262.5
p.K32Fs
c.94_95delinsGCGCFs
1 paper
NM_007262.5
p.I31N
c.92T>A
1 paper
NM_007262.5
p.V33A
c.98T>C
2 papers
NM_007262.5
p.V33G
c.98T>G
1 paper
NM_007262.5
p.I31insFs
c.92dupT
3 papers
NM_007262.5
p.I31fs
c.91_92fs
1 paper
NM_007262.5
p.T34P
c.100A>C
1 paper
NM_007262.5
p.T34A
c.100A>G
1 paper
NM_007262.5
p.T34delFs
c.101_102delCC
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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."