Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q34R
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PRKN

NM_004562.3:p.Q34R

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable7

Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.

Papagiannakis N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

A mutational atlas for Parkin proteostasis.

Clausen L et al.

Nature Communications, 2024

38378758 (PubMed )
Supplement: 41467_2024_45829_MOESM1_ESM.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

Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.

Halder T et al.

The Indian Journal of Medical Research, 2020

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

Parkin gene mutations are not common, but its epigenetic inactivation is a frequent event and predicts poor survival in advanced breast cancer patients.

Wahabi K et al.

Bmc Cancer, 2019

Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.

González-Casacuberta I et al.

Frontiers in Neuroscience, 2019

Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.

Zimmermann M et al.

Parkinsonism & Related Disorders, 2018

A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling.

Malty RH et al.

Cell Systems, 2017

Parkin regulation of CHOP modulates susceptibility to cardiac endoplasmic reticulum stress.

Han K et al.

Scientific Reports, 2017

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.

Sanyal J et al.

Journal of Human Genetics, 2015

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

Zanellati MC et al.

Frontiers in Genetics, 2015

Parkinson's Disease in Saudi Patients: A Genetic Study.

Al-Mubarak BR et al.

Plos One, 2015

PARK2 gene mutations in early onset Parkinson's disease patients of South India.

Padmaja MV et al.

Neuroscience Letters, 2012

Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.

Haylett WL et al.

Parkinsonism & Related Disorders, 2012

Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain.

Safadi SS et al.

Biochemistry, 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

Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.

Bardien S et al.

Parkinsonism & Related Disorders, 2009

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

Myhre R et al.

Bmc Neurology, 2008

Genomics of complex disorders II.

Unknown Author

Genomic Medicine, 2008

Genomics of complex disorders II.

Unknown Author

Genomic Medicine, 2008

Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.

Biswas A et al.

Parkinsonism & Related Disorders, 2006

An Indian Young-onset Dementia With Parkinsonism With Double Heterozygous Mutations in ABCA7 and PRKN Identified Through Whole-exome Sequencing.

Sadhukhan D et al.

Alzheimer Disease and Associated Disorders, 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."