Varaico: Literature-Extracted Genetic Variants

Gene:MYLIP
Variant:p.N342S
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MYLIP

NM_013262.4:p.N342S

Associated Papers

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia.

Duymus F et al.

Molecular Syndromology, 2025

A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.

Kalwick M et al.

Nutrients, 2025

Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.

Dagli-Hernandez C et al.

Pharmacological Reports : Pr, 2022

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

Martín-Campos JM

Biomedicines, 2021

Genetic polymorphism of IDOL gene was associated with the susceptibility of coronary artery disease in Han population in Xinjiang, China.

Adi D et al.

Hereditas, 2021

IDOL G51S Variant Is Associated With High Blood Cholesterol and Increases Low-Density Lipoprotein Receptor Degradation.

Adi D et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

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

A powerful statistical framework for generalization testing in GWAS, with application to the HCHS/SOL.

Sofer T et al.

Genetic Epidemiology, 2017

IDOL, inducible degrader of low-density lipoprotein receptor, serves as a potential therapeutic target for dyslipidemia.

Zhang CP et al.

Medical Hypotheses, 2016

Novel genes in LDL metabolism--a comprehensive overview.

Christoffersen M et al.

Current Opinion in Lipidology, 2015

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

IDOL N342S Variant, Atherosclerosis Progression and Cardiovascular Disorders in the Italian General Population.

Dhyani A et al.

Plos One, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia.

Santos PC et al.

Pharmacogenetics and Genomics, 2014

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › coding

Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.

Sorrentino V et al.

European Heart Journal, 2013

Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.

Gamboa-Meléndez MA et al.

Diabetes, 2012

Feedback regulation of cholesterol uptake by the LXR-IDOL-LDLR axis.

Zhang L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2012

Association of MYLIP rs3757354 SNP and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Yan TT et al.

Lipids in Health and Disease, 2012

MYLIP p.N342S polymorphism is not associated with lipid profile in the Brazilian population.

Santos PC et al.

Lipids in Health and Disease, 2012

Post-transcriptional regulation of lipoprotein receptors by the E3-ubiquitin ligase inducible degrader of the low-density lipoprotein receptor.

Sorrentino V et al.

Current Opinion in Lipidology, 2012

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans.

Weissglas-Volkov D et al.

The Journal of Clinical Investigation, 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Plasma inducible degrader of the LDLR, soluble low-density lipoprotein receptor, and proprotein convertase subtilisin/kexin type 9 levels as potential biomarkers of familial hypercholesterolemia in children.

Girona J et al.

Journal of Clinical Lipidology, 0

SUMOylation of the ubiquitin ligase IDOL decreases LDL receptor levels and is reversed by SENP1.

Wang JQ et al.

The Journal of Biological Chemistry, 0

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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."