Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.R19*
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APOC3

NM_000040.3:p.R19*

Associated Papers

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.

Mitchell BD et al.

American Journal of Medical Genetics. Part A, 2025

Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.

Selvaraj MS et al.

Genome Biology, 2025

The role of protective genetic variants in modulating epigenetic aging.

Bejaoui Y et al.

Geroscience, 2025

Investigating telomere length in progeroid syndromes: implications for aging disorders.

Srour L et al.

Aging, 2025

Methylome-wide association analyses of lipids and modifying effects of behavioral factors in diverse race and ethnicity participants.

Hu Y et al.

Clinical Epigenetics, 2025

40176173 (PubMed )
Supplement: 13148_2025_1859_MOESM1_ESM.docx

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

Missense variants in SORT1 are associated with LDL-C in an Amish population.

Mitok KA et al.

Journal of Lipid Research, 2023

Genetics of metabolic traits in Greenlanders.

Thuesen ACB et al.

Danish Medical Journal, 2023

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.

Wang Y et al.

American Journal of Human Genetics, 2023

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study.

Wang Y et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Whole genome sequence analysis of blood lipid levels in >66,000 individuals.

Selvaraj MS et al.

Nature Communications, 2022

Postprandial metabolism of apolipoproteins B48, B100, C-III, and E in humans with APOC3 loss-of-function mutations.

Taskinen MR et al.

Jci Insight, 2022

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

An Amish founder population reveals rare-population genetic determinants of the human lipidome.

Montasser ME et al.

Communications Biology, 2022

Genetics and regulation of HDL metabolism.

Kardassis D et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022

Ethnic differences in ApoC-III concentration and the risk of cardiovascular disease: No evidence for the cardioprotective role of rare/loss of function APOC3 variants in non-Europeans.

Rout M et al.

American Heart Journal Plus : Cardiology Research and Practice, 2022

Targeting ApoC3 Paradoxically Aggravates Atherosclerosis in Hamsters With Severe Refractory Hypercholesterolemia.

Xu Y et al.

Frontiers in Cardiovascular Medicine, 2022

Unravelling lipoprotein metabolism with stable isotopes: tracing the flow.

Ying Q et al.

Metabolism: Clinical and Experimental, 2021

APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.

Goyal S et al.

Lipids in Health and Disease, 2021

Volanesorsen for treatment of familial chylomicronemia syndrome.

Lazarte J et al.

Expert Review of Cardiovascular Therapy, 2021

Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.

Read RW et al.

Frontiers in Genetics, 2021

Common APOC3 variants are associated with circulating ApoC-III and VLDL cholesterol but not with total apolipoprotein B and coronary artery disease.

Silbernagel G et al.

Atherosclerosis, 2020

Low cholesterol syndrome and drug development.

Handhle A et al.

Current Opinion in Cardiology, 2020

Triglycerides and remnant cholesterol associated with risk of aortic valve stenosis: Mendelian randomization in the Copenhagen General Population Study.

Kaltoft M et al.

European Heart Journal, 2020

Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Alnouri F et al.

Global Heart, 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Quantile-dependent expressivity of postprandial lipemia.

Williams PT

Plos One, 2020

APOC3 rs2070667 Associates with Serum Triglyceride Profile and Hepatic Inflammation in Nonalcoholic Fatty Liver Disease.

Xu QY et al.

Biomed Research International, 2020

Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's.

Malalla ZH et al.

Lipids in Health and Disease, 2019

Emerging evidences for the opposite role of apolipoprotein C3 and apolipoprotein A5 in lipid metabolism and coronary artery disease.

Dai W et al.

Lipids in Health and Disease, 2019

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Genomics of disease risk in globally diverse populations.

Gurdasani D et al.

Nature Reviews. Genetics, 2019

Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Akdeniz D et al.

Molecular Genetics & Genomic Medicine, 2019

Genetics, Dyslipidemia, and Cardiovascular Disease: New Insights.

Stein R et al.

Current Cardiology Reports, 2019

Emerging Evidence that ApoC-III Inhibitors Provide Novel Options to Reduce the Residual CVD.

Taskinen MR et al.

Current Atherosclerosis Reports, 2019

Effects of APOC3 Heterozygous Deficiency on Plasma Lipid and Lipoprotein Metabolism.

Reyes-Soffer G et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

Genetics of metabolic traits in Greenlanders: lessons from an isolated population.

Andersen MK et al.

Journal of Internal Medicine, 2018

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Kember RL et al.

Translational Psychiatry, 2018

30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.

Crawford DC et al.

Bmc Medical Genomics, 2018

Genetics of Subclinical Coronary Atherosclerosis.

Bielak LF et al.

Current Genetic Medicine Reports, 2018

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.

Natarajan P et al.

Nature Communications, 2018

30140000 (PubMed )
Supplement: 41467_2018_5747_MOESM1_ESM.pdf

APOC3 Loss-of-Function Mutations, Remnant Cholesterol, Low-Density Lipoprotein Cholesterol, and Cardiovascular Risk: Mediation- and Meta-Analyses of 137 895 Individuals.

Wulff AB et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2018

Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Hsueh WC et al.

Circulation. Cardiovascular Genetics, 2017

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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."