Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R420H
Back to variants list

PRKN

NM_004562.3:p.R420H

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

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.

Fardeau C et al.

International Journal of Molecular Sciences, 2022

A comprehensive computational study on pathogenic mis-sense mutations spanning the RING2 and REP domains of Parkin protein.

Biswas R et al.

Gene, 2017

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."