Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.I152T

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.I152T
c.455T>C
Surrounding Variants
1 paper
NM_007262.5
p.I152delFs
c.456delT
1 paper
NM_007262.5
p.L153V
c.457C>G
1 paper
NM_007262.5
p.L153P
c.458T>C
1 paper
NM_007262.5
p.L153R
c.458T>G
6 papers
NM_007262.5
p.T154A
c.460A>G
1 paper
NM_007262.5
p.T154fs
c.460_461fs
5 papers
NM_007262.5
p.T154K
c.461C>A
1 paper
NM_007262.5
p.T154R
c.461C>G
2 papers
NM_007262.5
p.T154I
c.461C>T
1 paper
NM_007262.5
p.G150D
c.449G>A
5 papers
NM_007262.5
p.G150S
c.448G>A
1 paper
NM_007262.5
p.S155R
c.463A>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."