Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q145*
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APOA5

NM_001371904.1:p.Q145*

Associated Papers

Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

41099101 (PubMed )
Supplement: atv-45-2264-s001.pdf

Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.

Makhmudova U et al.

Journal of Medical Case Reports, 2024

Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

Rodríguez-Gutiérrez PG et al.

International Journal of Molecular Sciences, 2022

Apolipoprotein A5: Extracellular and Intracellular Roles in Triglyceride Metabolism.

Forte TM et al.

Current Drug Targets, 2015

Apolipoprotein A-V; a potent triglyceride reducer.

Nilsson SK et al.

Atherosclerosis, 2011

Apoprotein A-V: an important regulator of triglyceride metabolism.

Kluger M et al.

Journal of Inherited Metabolic Disease, 2008

Rare APOA5 mutations--clinical consequences, metabolic and functional effects: an ENID review.

Talmud PJ

Atherosclerosis, 2007

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.

Calandra S et al.

Current Opinion in Lipidology, 2006

Is apolipoprotein A5 a novel regulator of triglyceride-rich lipoproteins?

Jakel H et al.

Annals of Medicine, 2006

Determination of the functionality of common APOA5 polymorphisms.

Talmud PJ et al.

The Journal of Biological Chemistry, 2005

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia.

Priore Oliva C et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2005

Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.

Perera SD et al.

Journal of Clinical Lipidology, 0

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