Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S325R
Back to variants list

LPL

NM_000237.3:p.S325R

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

The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.

Hu Y et al.

Lipids in Health and Disease, 2023

Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Qin YY et al.

Journal of Clinical Laboratory Analysis, 2018

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."