Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E21K
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APOE

NM_000041.4:p.E21K

Associated Papers

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.

Abraham N et al.

Scientific Reports, 2026

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

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

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

Abou Khalil Y et al.

Atherosclerosis, 2023

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

Miyashita A et al.

Journal of Human Genetics, 2023

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys).

Sasaki M et al.

Cen Case Reports, 2018

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

The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T>C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.

Wu H et al.

Journal of Atherosclerosis and Thrombosis, 2018

A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I.

Takasaki S et al.

Cen Case Reports, 2018

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

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

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

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Marduel M et al.

Human Mutation, 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."