Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R275Q
Back to variants list

PRKN

NM_004562.3:p.R275Q

Associated Papers

WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.

Kafantari E et al.

Genes, 2025

Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.

Bustillos BA et al.

Cells, 2024

Parkin deficiency promotes liver cancer metastasis by TMEFF1 transcription activation via TGF-β/Smad2/3 pathway.

Su Q et al.

Acta Pharmacologica Sinica, 2024

Interplay between α-synuclein and parkin genes: Insights of Parkinson's disease.

Sharma K et al.

Molecular Biology Reports, 2024

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

High-content phenotypic screen to identify small molecule enhancers of Parkin-dependent ubiquitination and mitophagy.

Tufi R et al.

Slas Discovery : Advancing Life Sciences R & D, 2023

Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Broadway BJ et al.

Cells, 2022

Investigation of USP30 inhibition to enhance Parkin-mediated mitophagy: tools and approaches.

Tsefou E et al.

The Biochemical Journal, 2021

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

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS1.HybridClusters

Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons.

Schwartzentruber A et al.

Scientific Reports, 2020

Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Kuusimäki T et al.

Journal 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

Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.

Lin DC et al.

Cancer Research, 2015

A recurrent mutation in PARK2 is associated with familial lung cancer.

Xiong D et al.

American Journal of Human Genetics, 2015

Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.

Angeli A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Wray S et al.

Plos One, 2012

Parkin enhances the expression of cyclin-dependent kinase 6 and negatively regulates the proliferation of breast cancer cells.

Tay SP et al.

The Journal of Biological Chemistry, 2010

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

Veeriah S et al.

Nature Genetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."