Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A230T
Back to variants list

PRKN

NM_004562.3:p.A230T

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

Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.

Bruzas S et al.

Cancers, 2021

34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1

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

Oczkowska A et al.

Current Genomics, 2013

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 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
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."