Varaico: Literature-Extracted Genetic Variants

Gene:LRP8
Variant:p.R952Q
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LRP8

NM_004631.5:p.R952Q

Associated Papers

An integrative neurogenomics workflow for precision medicine in neurodegenerative disorders.

Perezcano C et al.

Frontiers in Dementia, 2026

41717632 (PubMed )
Supplement: Table_2.xlsx › Hoja1

Largest-Scale Genomic Resource Reconstructing the Genetic Origin, Population Structure, and Biological Adaptations of the Hui People.

He G et al.

Molecular Biology and Evolution, 2025

Structural impact of GSR and LRP8 gene polymorphisms on protein function and their role in racing performance of homing pigeons.

Kulig H et al.

International Journal of Biological Macromolecules, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

ApoE Receptor-2 R952Q Variant in Macrophages Elevates Soluble LRP1 to Potentiate Hyperlipidemia and Accelerate Atherosclerosis in Mice.

Turkson V et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

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

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction.

Ghorbani MJ et al.

Arya Atherosclerosis, 2020

Identification of Genetic Variants Associated With Myocardial Infarction in Saudi Arabia.

Ai-Ghalayini KW et al.

The Heart Surgery Forum, 2020

Lipoprotein receptor signalling in atherosclerosis.

Mineo C

Cardiovascular Research, 2020

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Germline

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Barboza-Cerda MC et al.

Molecular Genetics & Genomic Medicine, 2019

Apolipoprotein C-III Strongly Correlates with Activated Factor VII-Anti-Thrombin Complex: An Additional Link between Plasma Lipids and Coagulation.

Martinelli N et al.

Thrombosis and Haemostasis, 2019

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

TG haplotype in the LRP8 is associated with myocardial infarction in south Indian population.

Asif M et al.

Gene, 2018

Convergent Lines of Evidence Support LRP8 as a Susceptibility Gene for Psychosis.

Li M et al.

Molecular Neurobiology, 2016

Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotides.

Hinrich AJ et al.

Embo Molecular Medicine, 2016

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

TNF-alpha-308G>A polymorphism and the risk of familial CAD in a Pakistani population.

Hussain S et al.

Human Immunology, 2015

Genetic variants of ApoE and ApoER2 differentially modulate endothelial function.

Ulrich V et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

A novel molecular diagnostic marker for familial and early-onset coronary artery disease and myocardial infarction in the LRP8 gene.

Shen GQ et al.

Circulation. Cardiovascular Genetics, 2014

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1

Multi-allelic haplotype association identifies novel information different from single-SNP analysis: a new protective haplotype in the LRP8 gene is against familial and early-onset CAD and MI.

Shen GQ et al.

Gene, 2013

Identification of a functional apolipoprotein E promoter polymorphism regulating plasma apolipoprotein E concentration.

Mannila MN et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

Association analysis of LRP8 SNP rs3820198 and rs5174 with Parkinson's disease in Han Chinese population.

Chen K et al.

Neurological Research, 2012

Sequencing and analysis of a South Asian-Indian personal genome.

Gupta R et al.

Bmc Genomics, 2012

Genetic variant R952Q in LRP8 is associated with increased plasma triglyceride levels in patients with early-onset CAD and MI.

Shen GQ et al.

Annals of Human Genetics, 2012

Investigation of LRP8 gene in 1p31 QTL linked to LDL peak particle diameter in the Quebec family study.

Dolley G et al.

Molecular Genetics and Metabolism, 2011

Additive effect of LRP8/APOER2 R952Q variant to APOE epsilon2/epsilon3/epsilon4 genotype in modulating apolipoprotein E concentration and the risk of myocardial infarction: a case-control study.

Martinelli N et al.

Bmc Medical Genetics, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia.

Helbecque N et al.

Neurobiology of Aging, 2009

Deficiency of LRP8 in mice is associated with altered platelet function and prolonged time for in vivo thrombosis.

Robertson JO et al.

Thrombosis Research, 2009

Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction.

Lieb W et al.

Journal of Molecular Medicine (berlin, Germany), 2008

Protein C supports platelet binding and activation under flow: role of glycoprotein Ib and apolipoprotein E receptor 2.

White TC et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

Identification of a novel locus for triglyceride on chromosome 1p31-32 in families with premature CAD and MI.

Seidelmann SB et al.

Journal of Lipid Research, 2008

An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction.

Shen GQ et al.

American Journal of Human Genetics, 2007

Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease.

Ma SL et al.

Neuroscience Letters, 2002

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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."