Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.N273S
Back to variants list

PRKN

NM_004562.3:p.N273S

Associated Papers

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

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

Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.

Smaili I et al.

Journal of Molecular Neuroscience : Mn, 2021

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

Synergistic recruitment of UbcH7~Ub and phosphorylated Ubl domain triggers parkin activation.

Condos TE et al.

The Embo Journal, 2018

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

Polyubiquitination of apurinic/apyrimidinic endonuclease 1 by Parkin.

Scott TL et al.

Molecular Carcinogenesis, 2017

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

Hu HH et al.

Journal of the National Cancer Institute, 2016

Site-specific Interaction Mapping of Phosphorylated Ubiquitin to Uncover Parkin Activation.

Yamano K et al.

The Journal of Biological Chemistry, 2015

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C 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

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Nuytemans K et al.

Human Mutation, 2009

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

Lesage S et al.

Journal of Medical Genetics, 2008

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."