Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R246C
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APOE

NM_000041.4:p.R246C

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

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

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

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

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

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

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

Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Masoodi TA et al.

Neurology Research International, 2012

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