Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.P258L
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PNPLA2

NM_020376.4:p.P258L

Associated Papers

Patatin-domain-containing (phospho)lipases under control: Mammalian co-regulators and pathogenic activation mechanisms.

Dubey N et al.

Febs Open Bio, 2026

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

Kohlmayr JM et al.

Nature Communications, 2024

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