Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.L10L

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.L10L
c.30G>C
Surrounding Variants
1 paper
NM_007262.5
p.A11T
c.31G>A
41 papers
NM_007262.5
p.L10P
c.29T>C
1 paper
NM_007262.5
p.L10M
c.28C>A
1 paper
NM_007262.5
p.A11_K12ins1
c.33_34insGTT
1 paper
NM_007262.5
p.L10V
c.28C>G
1 paper
NM_007262.5
p.I9M
c.27C>G
1 paper
NM_007262.5
p.K12E
c.34A>G
1 paper
NM_007262.5
p.I9T
c.26T>C
1 paper
NM_007262.5
p.K12R
c.35A>G
1 paper
NM_007262.5
p.K12I
c.35A>T
2 papers
NM_007262.5
p.G13R
c.37G>A
2 papers
NM_007262.5
p.G13R
c.37G>C
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."