Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.L272L
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NPC1L1

NM_001101648.2:p.L272L

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Martín-Campos JM

Biomedicines, 2021

34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf

Common single nucleotide polymorphisms at the NPC1L1 gene locus significantly predict cardiovascular risk in coronary patients.

Muendlein A et al.

Atherosclerosis, 2015

Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment.

Pisciotta L et al.

Lipids in Health and Disease, 2012

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Calandra S et al.

Journal of Lipid Research, 2011

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Pisciotta L et al.

Atherosclerosis, 2007

A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias.

Lupattelli G et al.

Journal of Clinical Lipidology, 0

Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).

Muntoni S et al.

Journal of Clinical Lipidology, 0

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