Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.V254E
Back to variants list

APOE

NM_000041.4:p.V254E

Associated Papers

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

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

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

Marmontel O et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 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

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

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

31700678 (PubMed )
Supplement: 41525_2019_101_MOESM1_ESM.pdf

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

Identification of a Nuclear Respiratory Factor 1 Recognition Motif in the Apolipoprotein E Variant APOE4 linked to Alzheimer's Disease.

Urfer-Buchwalder A et al.

Scientific Reports, 2017

The effects of serum apolipoprotein E genetic variants and concentration on serum lipid parameters in haemodialysis patients.

Wang K et al.

The Journal of Pharmacy and Pharmacology, 2015

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

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

Comprehensive evaluation of the association of APOE genetic variation with plasma lipoprotein traits in U.S. whites and African blacks.

Radwan ZH et al.

Plos One, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."