Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E31K
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APOE

NM_000041.4:p.E31K

Associated Papers

Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.

Takeuchi F et al.

Journal of Atherosclerosis and Thrombosis, 2026

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

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

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

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM2_ESM.xlsx › Sheet1

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

Rasmussen KL et al.

Atherosclerosis, 2023

Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.

Abondio P et al.

Current Issues in Molecular Biology, 2023

37185708 (PubMed )
Supplement: cimb-45-00184-s001.zip › cimb-2284441-supplementary › CIMB_APOE_supplementary.xlsx › Supplementary_Table_S1

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

Miyashita A et al.

Journal of Human Genetics, 2023

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

Rasmussen KL et al.

Jama Ophthalmology, 2023

Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.

Heidemann BE et al.

Clinical Genetics, 2022

35781703 (PubMed )
Supplement: CGE-102-253-s001.docx

Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.

Le Guen Y et al.

Jama Neurology, 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

In silico analyses of deleterious missense SNPs of human apolipoprotein E3.

Pires AS et al.

Scientific Reports, 2017

28559539 (PubMed )
Supplement: 41598_2017_1737_MOESM1_ESM.docx

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
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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."