Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.S1647T
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LRRK2

NM_198578.4:p.S1647T

Associated Papers

No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson's disease.

Gagliardi M et al.

Gene, 2026

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.

Lim KS et al.

Npj Parkinson's Disease, 2026

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Deng X et al.

Plos One, 2026

41505438 (PubMed )
Supplement: pone.0340448.s004.pdf

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson's Cohort: epidemiology and clinical insights.

Goh JW et al.

Npj Parkinson's Disease, 2025

LRRK2 and the fragile synapse: a molecular prelude to Parkinson's disease?

Masotti B et al.

The Biochemical Journal, 2025

Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.

Drwesh L et al.

Npj Parkinson's Disease, 2025

40954161 (PubMed )
Supplement: 41531_2025_1115_MOESM2_ESM.xlsx › Depolarization_quantification

The LRRK2 p.A419V variant associates with risk of Parkinson's disease in the East Asian population and an evaluation on age of onset.

Lim KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.

Ambroziak M et al.

International Journal of Molecular Sciences, 2025

40076866 (PubMed )
Supplement: ijms-26-02244-s001.zip › ijms-3484719-supplementary.xlsx › data_1

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.

Lim SY et al.

Npj Parkinson's Disease, 2025

39988587 (PubMed )
Supplement: 41531_2025_884_MOESM2_ESM.xlsx › Controls

The impact of BST1 rs4698412 variant on Parkinson's disease progression in a longitudinal study.

Xu HL et al.

Frontiers in Aging Neuroscience, 2025

Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.

Walkenhorst M et al.

Frontiers in Medicine, 2025

41488087 (PubMed )
Supplement: Table_1.xlsx › Data

Interaction between caffeine consumption & genetic susceptibility in Parkinson's disease: A systematic review.

Yang Y et al.

Ageing Research Reviews, 2024

The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.

Kars ME et al.

Genome Medicine, 2024

Occupational Pesticide Exposure in Parkinson's Disease Related to GBA and LRRK2 Variants.

Brown EG et al.

Journal of Parkinson's Disease, 2024

38820021 (PubMed )
Supplement: jpd-14-jpd240015-s001.pdf

Emerging perspectives on precision therapy for Parkinson's disease: multidimensional evidence leading to a new breakthrough in personalized medicine.

Wang Q et al.

Frontiers in Aging Neuroscience, 2024

Caffeine intake interacts with Asian gene variants in Parkinson's disease: a study in 4488 subjects.

Ong YL et al.

The Lancet Regional Health. Western Pacific, 2023

Allele-dependent interaction of LRRK2 and NOD2 in leprosy.

Dallmann-Sauer M et al.

Plos Pathogens, 2023

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2022

Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

Kalogeropulou AF et al.

The Biochemical Journal, 2022

The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization.

Lara Ordóñez AJ et al.

Biology Open, 2022

Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Thakur G et al.

Genes, 2022

Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Lake J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Bagyinszky E et al.

Brain Sciences, 2021

34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf

A Disease Progression Model to Quantify the Nonmotor Symptoms of Parkinson's Disease in Participants With Leucine-Rich Repeat Kinase 2 Mutation.

Ahamadi M et al.

Clinical Pharmacology and Therapeutics, 2021

Emerging hiPSC Models for Drug Discovery in Neurodegenerative Diseases.

Trudler D et al.

International Journal of Molecular Sciences, 2021

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Structural analysis of the full-length human LRRK2.

Myasnikov A et al.

Cell, 2021

Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.

Bryant N et al.

Human Molecular Genetics, 2021

Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Goveas L et al.

Cells, 2021

Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Herrick MK et al.

Npj Parkinson's Disease, 2021

Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease.

Heckman MG et al.

Parkinsonism & Related Disorders, 2021

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Torrealba-Acosta G et al.

Frontiers in Neurology, 2021

34421783 (PubMed )
Supplement: Data_Sheet_1.ZIP › Supplementary_Tables_Costa_Rica_updated.xlsx › Suppl_Table_3_Common_Variants
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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."