Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P425S
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PINK1

NM_032409.3:p.P425S

Associated Papers

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

Miro2 supplies a platform for Parkin translocation to damaged mitochondria.

Wang JQ et al.

Science Bulletin, 2019

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

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

Cardona F et al.

Human Mutation, 2011

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

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

Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.

Zadikoff C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C et al.

European Journal of Human Genetics : Ejhg, 2005

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Bonifati V et al.

Neurology, 2005

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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."