Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL8
Variant:p.Q121*
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ANGPTL8

NM_018687.7:p.Q121*

Associated Papers

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Rosenson RS et al.

Nature Medicine, 2023

36879129 (PubMed )
Supplement: 41591_2023_2222_MOESM1_ESM.pdf

Genetic Mimicry Analysis Reveals the Specific Lipases Targeted by the ANGPTL3-ANGPTL8 Complex and ANGPTL4.

Landfors F et al.

Journal of Lipid Research, 2023

Genetic and Metabolic Determinants of Plasma Levels of ANGPTL8.

Oldoni F et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia.

Tarugi P et al.

Journal of Biomedical Research, 2019

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

Klarin D et al.

Nature Genetics, 2018

Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus.

Cannon ME et al.

G3 (bethesda, Md.), 2017

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.

Clapham KR et al.

Bmc Endocrine Disorders, 2016

Insights into blood lipids from rare variant discovery.

Schmidt EM et al.

Current Opinion in Genetics & Development, 2015

Rare and low-frequency variants in human common diseases and other complex traits.

Lettre G

Journal of Medical Genetics, 2014

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Peloso GM et al.

American Journal of Human Genetics, 2014

High frequency of type 2 diabetes and impaired glucose tolerance in Japanese subjects with the angiopoietin-like protein 8 R59W variant.

Liu J et al.

Journal of Clinical Lipidology, 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."