Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R276Q
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PINK1

NM_032409.3:p.R276Q

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

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

Novel P-TEN-induced putative kinase 1 (PINK1) variant in Indian Parkinson's disease patient.

Halder T et al.

Neuroscience Letters, 2015

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

Evaluation of PINK1 variants in Indian Parkinson's disease patients.

Biswas A et al.

Parkinsonism & Related Disorders, 2010

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

Marongiu R et al.

Human Mutation, 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."