Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.G100V

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.G100V
c.299G>T
Surrounding Variants
1 paper
NM_007262.5
p.G100D
c.299G>A
1 paper
NM_007262.5
p.G100A
c.299G>C
1 paper
NM_007262.5
p.L101_I102del2
c.301_305del6
2 papers
NM_007262.5
p.G100S
c.298G>A
1 paper
NM_007262.5
p.L101V
c.301C>G
1 paper
NM_007262.5
p.K99R
c.296A>G
4 papers
NM_007262.5
p.L101P
c.302T>C
2 papers
NM_007262.5
p.R98R
c.294G>A
1 paper
NM_007262.5
p.R98R
c.294G>C
68 papers
NM_007262.5
p.R98Q
c.293G>A
2 papers
NM_007262.5
p.R98W
c.292C>T
67 papers
NM_007262.5
p.A104T
c.310G>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."