Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.E163K

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
47 papers
NM_007262.5
p.E163K
c.487G>A
Surrounding Variants
1 paper
NM_007262.5
p.F162L
c.486C>A
1 paper
NM_007262.5
p.F162L
c.486C>G
1 paper
NM_007262.5
p.F162L
c.484T>C
1 paper
NM_007262.5
p.F164L
c.490T>C
1 paper
NM_007262.5
p.F164S
c.491T>C
1 paper
NM_007262.5
p.S161N
c.482G>A
1 paper
NM_007262.5
p.F164L
c.492T>A
1 paper
NM_007262.5
p.F164L
c.492T>G
2 papers
NM_007262.5
p.T160T
c.480C>A
1 paper
NM_007262.5
p.A165V
c.494C>T
1 paper
NM_007262.5
p.T160S
c.479C>G
1 paper
NM_007262.5
p.L166del1
c.496_497delCTT
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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."