Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.R417W
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NPC1L1

NM_001101648.2:p.R417W

Associated Papers

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Gene polymorphism and frequencies of the NPC1L1 gene (rs2072183, rs217434 and rs217428) in Japanese patients with dyslipidemia.

Kashiwabara Y et al.

Journal of Clinical Pharmacy and Therapeutics, 2014

Niemann-Pick C1-Like 1 and cholesterol uptake.

Wang LJ et al.

Biochimica Et Biophysica Acta, 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

Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.

Ramirez R et al.

Hepatology (baltimore, Md.), 2011

Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.

Wang LJ et al.

The Journal of Biological Chemistry, 2011

In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers.

Yamanashi Y et al.

Pharmacogenetics and Genomics, 2009

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

Pisciotta L et al.

Atherosclerosis, 2007

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