Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.R221P
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PNPLA2

NM_020376.4:p.R221P

Associated Papers

Multiscale Analysis of PNPLA2 and PNPLA3 Membrane Targeting.

Kumar A et al.

Biorxiv : the Preprint Server for Biology, 2026

Mutational scanning pinpoints distinct binding sites of key ATGL regulators in lipolysis.

Kohlmayr JM et al.

Nature Communications, 2024

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.

Tavian D et al.

Molecular Genetics and Metabolism, 2017

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

Tavian D et al.

Human Molecular Genetics, 2012

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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."