Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.V227A
Back to variants list

LPL

NM_000237.3:p.V227A

Associated Papers

Lipoprotein Lipase: Structure, Function, and Genetic Variation.

Perera SD et al.

Genes, 2025

39858602 (PubMed )
Supplement: genes-16-00055-s001.zip › genes-3401157-supplementary.pdf

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

Bashir B et al.

Genetics in Medicine Open, 2025

Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.

Abedi AH et al.

Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2023

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Ayoub C et al.

Frontiers in Genetics, 2022

Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia.

Cruz-Bautista I et al.

Lipids in Health and Disease, 2021

Deciphering the role of V200A and N291S mutations leading to LPL deficiency.

Botta M et al.

Atherosclerosis, 2019

Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

Caddeo A et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2018

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24788417 (PubMed )
Supplement: pone.0096482.s005.doc

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.

Rodrigues R et al.

Journal of Clinical Lipidology, 0

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."