Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R33*
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PRKN

NM_004562.3:p.R33*

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 › ST2

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 2022

35861376 (PubMed )
Supplement: supplement_1.pdf

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-4-pkn-10.3233_jpd-212658.xlsx › ARPD

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease.

Jiang Y et al.

Brain and Behavior, 2020

Exploring the Impact of PARK2 Mutations on the Total and Mitochondrial Proteome of Human Skin Fibroblasts.

Zilocchi M et al.

Frontiers in Cell and Developmental Biology, 2020

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease.

Pandey S et al.

Parkinsonism & Related Disorders, 2019

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

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 genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

Parkin and Parkinson's disease.

Mizuno Y et al.

Current Opinion in Neurology, 2001

New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.

Terreni L et al.

Neurology, 2001

Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.

Maruyama M et al.

Annals of Neurology, 2000

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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."