Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1514Q
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LRRK2

NM_198578.4:p.R1514Q

Associated Papers

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

41629305 (PubMed )
Supplement: 41531_2026_1265_MOESM2_ESM.xlsx › Supplementary_Table_9

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable7

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

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

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

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

Kars ME et al.

Genome Medicine, 2024

38741190 (PubMed )
Supplement: 13073_2024_1335_MOESM2_ESM.xlsx › TableS16

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M et al.

Biomedicines, 2023

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

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Exploring the focal role of LRRK2 kinase in Parkinson's disease.

Kumar S et al.

Environmental Science and Pollution Research International, 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

Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.

Kolarikova K et al.

Frontiers in Neuroscience, 2022

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

Bryant N et al.

Human Molecular Genetics, 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

Community-based genetic study of Parkinson's disease in Estonia.

Muldmaa M et al.

Acta Neurologica Scandinavica, 2021

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_2_Rare_Variants

The LRRK2-RAB axis in regulation of vesicle trafficking and α-synuclein propagation.

Bae EJ et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Bartoníková T et al.

Medicine, 2018

Exploring the functional impact of mutational drift in LRRK2 gene and identification of specific inhibitors for the treatment of Parkinson disease.

Nagarajan N et al.

Journal of Cellular Biochemistry, 2018

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Sanchez-Contreras M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › _Table_S6

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.

Lubbe SJ et al.

Human Molecular Genetics, 2016

27798102 (PubMed )
Supplement: ddw348_Supp.zip › ddw348-suppl_data › Lubbe_et_al_21092016_suppl_data_HMG_v2.xlsx › Suppl.Table_1

Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.

Gorostidi A et al.

Molecular Diagnosis & Therapy, 2016

LRRK2 variation and dementia with Lewy bodies.

Heckman MG et al.

Parkinsonism & Related Disorders, 2016

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA et al.

Molecular Neurodegeneration, 2016

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

Bandrés-Ciga S et al.

Neurobiology of Aging, 2016

Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Melachroinou K et al.

Plos One, 2016

Association between Parkinson's disease and G2019S and R1441C mutations of the LRRK2 gene.

Li XX et al.

Experimental and Therapeutic Medicine, 2015

Phenotypic and molecular analyses of primary lateral sclerosis.

Mitsumoto H et al.

Neurology. Genetics, 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Ghani M et al.

Neurobiology of Aging, 2015

Parkinson's disease, genetic variability and the Faroe Islands.

Petersen MS et al.

Parkinsonism & Related Disorders, 2015

LRRK2 exonic variants and risk of multiple system atrophy.

Heckman MG et al.

Neurology, 2014

A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.

Law BM et al.

The Journal of Biological Chemistry, 2014

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.

Anfossi M et al.

Journal of Alzheimer's Disease : Jad, 2014

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

The GTPase function of LRRK2.

Taymans JM

Biochemical Society Transactions, 2012

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio JP et al.

Human Mutation, 2012

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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."