Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.L46P
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APOE

NM_000041.4:p.L46P

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

41533464 (PubMed )
Supplement: ACR2-8-e70124-s001.docx

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

Srivastava K 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

Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.

Podleśny-Drabiniok A et al.

Cell Reports, 2025

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-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

A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.

Kalwick M et al.

Nutrients, 2025

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

Blokhina AV et al.

International Journal of Molecular Sciences, 2024

Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region.

Ismail AB et al.

Biomedicines, 2024

Corrigendum to "APOE gene variants in primary dyslipidemia" [Atherosclerosis (2021 Jul) 328 11-22].

Abou Khalil Y et al.

Atherosclerosis, 2023

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

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

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

Rasmussen KL et al.

Jama Ophthalmology, 2023

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

Li C et al.

Frontiers in Bioinformatics, 2023

Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

Pan-Lizcano R et al.

International Journal of Molecular Sciences, 2022

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

Heidemann BE et al.

Clinical Genetics, 2022

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

Le Guen Y et al.

Jama Neurology, 2022

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

Abou Khalil Y et al.

International Journal of Molecular Sciences, 2022

FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.

Fath F et al.

Scientific Reports, 2021

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

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

Zhou Y et al.

Journal of Lipid Research, 2018

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Keogh MJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

29332010 (PubMed )
Supplement: jnnp-2017-317234supp001.pdf

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

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Geiger JT et al.

Neurobiology of Disease, 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

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

Tindale LC et al.

Neurobiology of Aging, 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

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Benitez BA 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

Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation.

Corbo RM et al.

Molecular Genetics and Metabolism, 2006

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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."