Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R163C
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APOE

NM_000041.4:p.R163C

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

Molecular dynamics of select missense mutations of Apolipoprotein E and their implications in Hyperlipoproteinemia type III.

Thakur S et al.

Biochemistry and Biophysics Reports, 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

Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.

Urbanski AH et al.

Journal of Medical Virology, 2025

40817859 (PubMed )
Supplement: JMV-97-e70556-s002.docx

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

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

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

Marmontel O et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Contribution of APOE Genetic Variants to Dyslipidemia.

Bea AM 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

Brain radiotoxicity-related 15CAcBRT gene expression signature predicts survival prognosis of glioblastoma patients.

Reyes-González J et al.

Neuro-oncology, 2023

35802478 (PubMed )
Supplement: noac171_suppl_suplementary_table_s7.xlsx › Table_S7

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Orthogonal analysis of variants in APOE gene using in-silico approaches reveals novel disrupting variants.

Li C et al.

Frontiers in Bioinformatics, 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

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

Abou Khalil Y et al.

International Journal of Molecular Sciences, 2022

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

The Genetics of Alzheimer's Disease in the Chinese Population.

Gan CL et al.

International Journal of Molecular Sciences, 2020

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.

Mariano C et al.

Clinical Genetics, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Apolipoprotein E-C1-C4-C2 gene cluster region and inter-individual variation in plasma lipoprotein levels: a comprehensive genetic association study in two ethnic groups.

Pirim D et al.

Plos One, 2019

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

Zhou Y et al.

Journal of Lipid Research, 2018

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

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

Pires AS et al.

Scientific Reports, 2017

Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Leren TP et al.

Molecular Genetics and Metabolism Reports, 2016

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Wintjens R et al.

Journal of Lipid Research, 2016

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

Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

Hellwege JN et al.

Genetic Epidemiology, 2014

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Peloso GM et al.

American Journal of Human Genetics, 2014

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

Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Wu Y et al.

Plos Genetics, 2013

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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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."