Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R42H
Back to variants list

PINK1

NM_032409.3:p.R42H

Associated Papers

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

Impact of altered phosphorylation on loss of function of juvenile Parkinsonism-associated genetic variants of the E3 ligase parkin.

Aguirre JD et al.

The Journal of Biological Chemistry, 2018

Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.

Madegowda RH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

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."