Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.L185P

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
2 papers
NM_007262.5
p.L185P
c.554T>C
Surrounding Variants
1 paper
NM_007262.5
p.L185F
c.553C>T
2 papers
NM_007262.5
p.V186V
c.558T>C
1 paper
NM_007262.5
p.L187I
c.559C>A
1 paper
NM_007262.5
p.L187F
c.559C>T
1 paper
NM_007262.5
p.L187P
c.560T>C
1 paper
NM_007262.5
p.L187L
c.561T>A
2 papers
NM_007262.5
p.K188E
c.562A>G
2 papers
NM_007262.5
p.K182R
c.545A>G
2 papers
NM_007262.5
p.K188R
c.563A>G
1 paper
NM_007262.5
p.D189N
c.565G>A
1 paper
NM_007262.5
p.D189A
c.566A>C
1 paper
NM_007262.5
p.D189G
c.566A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."