Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.D49V

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.D49V
c.146A>T
Surrounding Variants
3 papers
NM_007262.5
p.R48H
c.143G>A
1 paper
NM_007262.5
p.V50E
c.149T>A
1 paper
NM_007262.5
p.R48G
c.142C>G
1 paper
NM_007262.5
p.R48C
c.142C>T
1 paper
NM_007262.5
p.S47R
c.141C>A
1 paper
NM_007262.5
p.S47R
c.141C>G
3 papers
NM_007262.5
p.V51A
c.152T>C
1 paper
NM_007262.5
p.V51G
c.152T>G
1 paper
NM_007262.5
p.S47R
c.139A>C
2 papers
NM_007262.5
p.S47G
c.139A>G
3 papers
NM_007262.5
p.I52delFs
c.154delA
1 paper
NM_007262.5
p.C46Y
c.137G>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."