Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R116Q
Back to variants list

LPL

NM_000237.3:p.R116Q

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

The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update.

Dabravolski SA et al.

Sage Open Medicine, 2024

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

Wu YQ et al.

Bmc Pediatrics, 2021

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

Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Jin JL et al.

Ebiomedicine, 2018

30420299 (PubMed )
Supplement: mmc1.pdf

[The effect of lipoprotein lipase (LPL) polymorphism on plasma LPL concentration and triglyceride].

Liu J et al.

Zhonghua Yi Xue Za Zhi, 2005

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

Hegele RA 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."