Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.D243N
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PRKN

NM_004562.3:p.D243N

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

41413081 (PubMed )
Supplement: 41531_2025_1192_MOESM1_ESM.pdf

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.

Ngo KJ et al.

Npj Parkinson's Disease, 2024

38664407 (PubMed )
Supplement: 41531_2024_703_MOESM1_ESM.pdf

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Menon PJ et al.

Npj Parkinson's Disease, 2024

38553467 (PubMed )
Supplement: 41531_2024_677_MOESM1_ESM.pdf

Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.

Kukkle PL et al.

Advanced Biology, 2022

Acetylation, Phosphorylation, Ubiquitination (Oh My!): Following Post-Translational Modifications on the Ubiquitin Road.

Lacoursiere RE et al.

Biomolecules, 2022

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

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

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort.

Castelo Rueda MP et al.

Frontiers in Neurology, 2021

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Fava VM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Parkin and mitophagy in cancer.

Bernardini JP et al.

Oncogene, 2017

Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations.

Erer S et al.

Clinical Neurology and Neurosurgery, 2016

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population.

Lohmann E et al.

European Journal of Neurology, 2012

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

Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

Veeriah S et al.

Nature Genetics, 2010

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Brooks J et al.

Journal of Medical Genetics, 2009

Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.

Forloni G et al.

Neurobiology of Aging, 0

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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."