Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.A315V
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APOA5

NM_001371904.1:p.A315V

Associated Papers

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

40919303 (PubMed )
Supplement: mmc1.pdf

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf

Whole Exome Sequencing of HIV-1 long-term non-progressors identifies rare variants in genes encoding innate immune sensors and signaling molecules.

Nissen SK et al.

Scientific Reports, 2018

30323326 (PubMed )
Supplement: 41598_2018_33481_MOESM1_ESM.pdf

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 › Other_APO_genes

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf

Apolipoprotein A5 fifteen years anniversary: Lessons from genetic epidemiology.

Hubacek JA

Gene, 2016

Whole Exome Sequencing in Monogenic Dyslipidemias.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2015

Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.

Mendoza-Barberá E et al.

Journal of Lipid Research, 2013

Resequencing the apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia.

Evans D et al.

Atherosclerosis, 2011

The relative importance of common and rare genetic variants in the development of hypertriglyceridemia.

Evans D et al.

Expert Review of Cardiovascular Therapy, 2011

[Impact of apolipoprotein A5 on cardiovascular risk. Genetic and environmental modulation].

Sotos-Prieto M et al.

Revista Medica De Chile, 2010

Apolipoprotein A5 in health and disease.

Hubáček JA et al.

Physiological Research, 2009

Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.

Dorfmeister B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2008

APOA5 Ala315>Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels.

Hubacek JA et al.

Clinical Chemistry and Laboratory Medicine, 2008

Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650).

Wang J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2007

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.

Pennacchio LA et al.

Human Molecular Genetics, 2002

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.

Hegele RA et al.

Journal of Clinical Lipidology, 0

Differential effects of volanesorsen on apoC-III, triglycerides, and pancreatitis in familial chylomicronemia syndrome diagnosed by genetic or nongenetic criteria.

Tsimikas S 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."