Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P399L
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PINK1

NM_032409.3:p.P399L

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST3

Synaptic deregulation of cholinergic projection neurons causes olfactory dysfunction across five fly Parkinsonism models.

Pech U et al.

Elife, 2025

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 2017

PINK1 rendered temperature sensitive by disease-associated and engineered mutations.

Narendra DP et al.

Human Molecular Genetics, 2013

Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).

Sim CH et al.

Human Mutation, 2012

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

Cardona F et al.

Human Mutation, 2011

R492X mutation in PTEN-induced putative kinase 1 induced cellular mitochondrial dysfunction and oxidative stress.

Yuan XL et al.

Brain Research, 2010

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

Xiong H et al.

The Journal of Clinical Investigation, 2009

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).

Mills RD et al.

Journal of Neurochemistry, 2008

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R et al.

Human Mutation, 2008

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

Tang B et al.

Human Molecular Genetics, 2006

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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."