Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R269G
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APOE

NM_000041.4:p.R269G

Associated Papers

Impact of Variation in APOE on Rheumatoid Arthritis, Psoriasis, and Psoriatic Arthritis: Sequencing and Genotyping in General Population Cohorts.

Rasmussen KL et al.

Acr Open Rheumatology, 2026

Integrative bioinformatics analysis of APOE variants in Alzheimer's disease and clinical therapeutics.

Srivastava K et al.

Journal of Biomolecular Structure & Dynamics, 2025

Mapping the APOE structurally on missense variants in elderly Brazilians.

de Lima Pizzico F et al.

Journal of Biomolecular Structure & Dynamics, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM3_ESM.xlsx › Supplementary_Data_1

Association of rare APOE missense variants with Alzheimer's disease in the Japanese population.

Miyashita A et al.

Journal of Alzheimer's Disease : Jad, 2025

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.

Blokhina AV et al.

International Journal of Molecular Sciences, 2024

APOE and vascular disease: Sequencing and genotyping in general population cohorts.

Rasmussen KL et al.

Atherosclerosis, 2023

In Silico Structural Analysis Exploring Conformational Folding of Protein Variants in Alzheimer's Disease.

Efraimidis E et al.

International Journal of Molecular Sciences, 2023

Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.

Marmontel O et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Associations of Alzheimer Disease-Protective APOE Variants With Age-Related Macular Degeneration.

Rasmussen KL et al.

Jama Ophthalmology, 2023

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

Abou Khalil Y et al.

International Journal of Molecular Sciences, 2022

Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.

Pagnon de la Vega M et al.

Bmc Genomics, 2022

APOE and dementia - resequencing and genotyping in 105,597 individuals.

Rasmussen KL et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › APOE

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Rare and common variants in the Apolipoprotein E gene in healthy oldest old.

Tindale LC et al.

Neurobiology of Aging, 2014

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Marduel M et al.

Human Mutation, 2013

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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."