Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.A23T
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APOC3

NM_000040.3:p.A23T

Associated Papers

Apolipoprotein C-III amyloidosis in white lions (Panthera leo).

Kobayashi N et al.

Veterinary Pathology, 2024

APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.

Goyal S et al.

Lipids in Health and Disease, 2021

Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Hsueh WC et al.

Circulation. Cardiovascular Genetics, 2017

The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation.

Sundaram M et al.

Journal of Lipid Research, 2017

A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.

Khetarpal SA et al.

Nature Medicine, 2017

Metabolic Characterization of a Rare Genetic Variation Within APOC3 and Its Lipoprotein Lipase-Independent Effects.

Drenos F et al.

Circulation. Cardiovascular Genetics, 2016

27114411 (PubMed )
Supplement: hcg-9-231-s003.pdf

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

Crosby J et al.

The New England Journal of Medicine, 2014

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

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families.

Bochem AE et al.

Clinical Genetics, 2014

Human apolipoprotein C-III - a new intrahepatic protein factor promoting assembly and secretion of very low density lipoproteins.

Yao Z

Cardiovascular & Hematological Disorders Drug Targets, 2012

Intrahepatic role of exchangeable apolipoproteins in lipoprotein assembly and secretion.

Sundaram M et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2012

Missense mutation in APOC3 within the C-terminal lipid binding domain of human ApoC-III results in impaired assembly and secretion of triacylglycerol-rich very low density lipoproteins: evidence that ApoC-III plays a major role in the formation of lipid precursors within the microsomal lumen.

Qin W et al.

The Journal of Biological Chemistry, 2011

Functional analysis of the missense APOC3 mutation Ala23Thr associated with human hypotriglyceridemia.

Sundaram M et al.

Journal of Lipid Research, 2010

Genetic determinants of plasma triglycerides: impact of rare and common mutations.

Talmud PJ

Current Atherosclerosis Reports, 2001

Characterization of the lipid-binding properties and lipoprotein lipase inhibition of a novel apolipoprotein C-III variant Ala23Thr.

Liu H et al.

Journal of Lipid Research, 2000

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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."