Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.H321L
Back to variants list

APOA5

NM_001371904.1:p.H321L

Associated Papers

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

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

Whole Exome Sequencing in Monogenic Dyslipidemias.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2015

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant.

Albers K et al.

Atherosclerosis, 2014

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

Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.

Pisciotta L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Apolipoprotein A-V; a potent triglyceride reducer.

Nilsson SK et al.

Atherosclerosis, 2011

Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.

Charrière S et al.

Atherosclerosis, 2009

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."