Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.E38K
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LPL

NM_000237.3:p.E38K

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

40919303 (PubMed )
Supplement: mmc1.pdf

Recurrent Neoantigens in Colorectal Cancer as Potential Immunotherapy Targets.

Chen C et al.

Biomed Research International, 2020

32733937 (PubMed )
Supplement: 2861240.f1.zip › Table_S3.xlsx › Table_S3

Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.

Wolska A et al.

Atherosclerosis, 2017

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results

Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

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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."