Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.N542S
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PINK1

NM_032409.3:p.N542S

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

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.

Wang P et al.

Neuroscience Letters, 2018

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

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

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

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease.

Kumazawa R et al.

Archives of Neurology, 2008

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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."