Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.R405H
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ABCG8

NM_022437.3:p.R405H

Associated Papers

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

Okada T et al.

Journal of Atherosclerosis and Thrombosis, 2026

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Zein AA et al.

Biochemical Society Transactions, 2019

Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects.

Hansel B et al.

Atherosclerosis, 2014

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

Arginine 383 is a crucial residue in ABCG2 biogenesis.

Polgar O et al.

Biochimica Et Biophysica Acta, 2009

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 › TypeIII
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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."