Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.C291Y
Back to variants list

LPL

NM_000237.3:p.C291Y

Associated Papers

Identification of a novel pathogenic variant in the LPL gene in lipaemia retinalis in an infant.

Arya S et al.

Bmj Case Reports, 2025

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

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.

Shi XL et al.

Molecular Genetics & Genomic Medicine, 2020

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.

Lee CJ et al.

Yonsei Medical Journal, 2018

Loss of heterozygosity: what is it good for?

Ryland GL et al.

Bmc Medical Genomics, 2015

26231170 (PubMed )
Supplement: 12920_2015_123_MOESM2_ESM.xlsx › NewSuppTable4

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."