Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.D204E
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LPL

NM_000237.3:p.D204E

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

Long-Term Nutritional Counseling for a Patient with Lipoprotein Lipase Deficiency.

Torii T et al.

Journal of Atherosclerosis and Thrombosis, 2023

Orlistat response to missense mutations in lipoprotein lipase.

Chen H et al.

Biotechnology and Applied Biochemistry, 2017

Lipoprotein lipase activity in heterozygotes for lipoprotein lipase gene mutations reveals a gender bias.

Murase T et al.

Annals of Clinical Biochemistry, 2014

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.

Rahalkar AR et al.

Canadian Journal of Physiology and Pharmacology, 2009

Lipoprotein lipase: A bioinformatics criterion for assessment of mutations as a risk factor for cardiovascular disease.

Glisic S et al.

Proteins, 2008

Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

Maruyama T et al.

Journal of Atherosclerosis and Thrombosis, 2004

A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.

Ikeda Y et al.

Clinical Science (london, England : 1979), 2000

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.

Reina M et al.

Journal of Lipid Research, 1992

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

Rodrigues R et al.

Journal of Clinical Lipidology, 0

Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses.

Murase T et al.

Journal of Clinical Lipidology, 0

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