Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.A170D
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APOE

NM_000041.4:p.A170D

Associated Papers

Structural Analysis of Missense Mutations on the Stability of APOE3 and APOE4.

Anthony M et al.

Genes, 2025

41465183 (PubMed )
Supplement: genes-16-01509-s001.zip › Supplementary_Table_S3_APOE3_2L7B_.xlsx › Sheet1

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 Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2c._Multiple_occurences

Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

da Silveira-Neto JN et al.

Diagnostic Pathology, 2021

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

Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia.

Matsunaga A et al.

Clinical and Experimental Nephrology, 2014

A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C > A: p. (Ala170Asp).

Mulder JWCM et al.

Journal of Clinical Lipidology, 0

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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."