Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.I298S
Back to variants list

PRKN

NM_004562.3:p.I298S

Associated Papers

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.

Fevga C et al.

Brain : a Journal of Neurology, 2023

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

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

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."