Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R104W
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PRKN

NM_004562.3:p.R104W

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

Computational Identification of RNF114 nsSNPs with Potential Roles in Psoriasis and Immune Dysregulation.

Aldoseri GM et al.

Medical Sciences (basel, Switzerland), 2025

Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.

Pilotto A et al.

International Journal of Molecular Sciences, 2025

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

AMPK/ULK1-mediated phosphorylation of Parkin ACT domain mediates an early step in mitophagy.

Hung CM et al.

Science Advances, 2021

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

Yi W et al.

Human Molecular Genetics, 2019

Mechanism of parkin activation by PINK1.

Gladkova C et al.

Nature, 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

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

Oczkowska A 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

Parkin mutations in familial and sporadic Parkinson's disease among Indians.

Chaudhary S et al.

Parkinsonism & Related Disorders, 2006

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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."