Varaico: Literature-Extracted Genetic Variants

Gene:PARK7

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
1–12 of 503 variants
313 papers
NM_007262.5
p.L166P
c.497T>C
118 papers
NM_007262.5
p.M26I
c.78G>A
117 papers
NM_007262.5
p.M26I
c.78G>C
117 papers
NM_007262.5
p.M26I
c.78G>T
110 papers
NM_007262.5
p.E64D
c.192G>C
98 papers
NM_007262.5
p.E64D
c.192G>T
81 papers
NM_007262.5
p.D149A
c.446A>C
75 papers
NM_007262.5
p.E18V
c.53A>T
68 papers
NM_007262.5
p.R98Q
c.293G>A
67 papers
NM_007262.5
p.A104T
c.310G>A
47 papers
NM_007262.5
p.E163K
c.487G>A
41 papers
NM_007262.5
p.L10P
c.29T>C
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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."