Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.E238K
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ABCG8

NM_022437.3:p.E238K

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

Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Handelman SK et al.

Hepatology Communications, 2022

36098472 (PubMed )
Supplement: HEP4-6-3120-s001.xlsx › ST6

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Lassandro G et al.

Frontiers in Pediatrics, 2022

36507135 (PubMed )
Supplement: Table1.xlsx › Sheet1

FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.

Fath F et al.

Scientific Reports, 2021

Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

Helgadottir A et al.

European Heart Journal, 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

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Genetic regulation of serum phytosterol levels and risk of coronary artery disease.

Teupser D et al.

Circulation. Cardiovascular Genetics, 2010

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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."