Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.A107T

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
3 papers
NM_007262.5
p.A107T
c.319G>A
Surrounding Variants
8 papers
NM_007262.5
p.A107P
c.319G>C
2 papers
NM_007262.5
p.A107S
c.319G>T
36 papers
NM_007262.5
p.C106S
c.317G>C
2 papers
NM_007262.5
p.G108S
c.322G>A
1 paper
NM_007262.5
p.G108R
c.322G>C
2 papers
NM_007262.5
p.G108insFs
c.322_323insGT
36 papers
NM_007262.5
p.C106S
c.316T>A
1 paper
NM_007262.5
p.C106_G108del0
c.317_322del6
1 paper
NM_007262.5
p.G108Splc
c.322+2T>A
5 papers
NM_007262.5
p.I105F
c.313A>T
3 papers
NM_007262.5
p.G108Splc
c.322+4A>C
1 paper
NM_007262.5
p.G108Splc
c.322+4A>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."