Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.Q95E

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.Q95E
c.283C>G
Surrounding Variants
2 papers
NM_007262.5
p.E94*
c.280G>T
3 papers
NM_007262.5
p.E96G
c.287A>G
1 paper
NM_007262.5
p.K93R
c.278A>G
2 papers
NM_007262.5
p.R98W
c.292C>T
1 paper
NM_007262.5
p.L92fs
c.274_275fs
68 papers
NM_007262.5
p.R98Q
c.293G>A
2 papers
NM_007262.5
p.R98R
c.294G>A
1 paper
NM_007262.5
p.R98R
c.294G>C
1 paper
NM_007262.5
p.I91T
c.272T>C
1 paper
NM_007262.5
p.I91R
c.272T>G
1 paper
NM_007262.5
p.I91_L92insFs
c.273_274insA
1 paper
NM_007262.5
p.K99R
c.296A>G
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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."