Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.K496_R497Splc
Back to variants list

PINK1

NM_032409.3:p.K496_R497Splc

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.

Gunasekaran A et al.

Journal of Movement Disorders, 2024

39294919 (PubMed )
Supplement: jmd-24157-Supplementary-Table-1.pdf

A compound heterozygous PINK1-associated juvenile Parkinson's disease with pregnancy in Chinese.

Li JY et al.

Journal of Neurology, 2021

RNA-Targeting Splicing Modifiers: Drug Development and Screening Assays.

Tang Z et al.

Molecules (basel, Switzerland), 2021

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.

Diez-Fairen M et al.

Neurobiology of Aging, 2018

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

LRRK2 Expression Is Deregulated in Fibroblasts and Neurons from Parkinson Patients with Mutations in PINK1.

Azkona G et al.

Molecular Neurobiology, 2018

Parkinson's disease-related gene variants influence pre-mRNA splicing processes.

Gaweda-Walerych K et al.

Neurobiology of Aging, 2016

RNA mis-splicing in disease.

Scotti MM et al.

Nature Reviews. Genetics, 2016

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.

McNeill A et al.

Plos One, 2013

Genetic mutations and functions of PINK1.

Kawajiri S et al.

Trends in Pharmacological Sciences, 2011

PINK1-linked parkinsonism is associated with Lewy body pathology.

Samaranch L et al.

Brain : a Journal of Neurology, 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."