Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Q222K
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APOE

NM_000041.4:p.Q222K

Associated Papers

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

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

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

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

Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study.

Roberts BR et al.

Journal of Alzheimer's Disease Reports, 2023

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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