Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R396G
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PRKN

NM_004562.3:p.R396G

Associated Papers

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

Koros C et al.

Genes, 2023

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

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

Yi W et al.

Human Molecular Genetics, 2019

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

A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.

Lin CH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Oczkowska A et al.

Current Genomics, 2013

Structure and function of Parkin E3 ubiquitin ligase reveals aspects of RING and HECT ligases.

Riley BE et al.

Nature Communications, 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

Identification and characterization of a novel endogenous murine parkin mutation.

Ramsey CP et al.

Journal of Neurochemistry, 2010

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.

Wu RM et al.

Archives of Neurology, 2005

A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer.

Rostagno P et al.

Journal of Human Genetics, 2003

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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."