Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S271T
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LPL

NM_000237.3:p.S271T

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

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency.

Li Y et al.

Frontiers in Genetics, 2022

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

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

Rodrigues R et al.

Journal of Clinical Lipidology, 0

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