Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.G575R
Back to variants list

ABCG8

NM_022437.3:p.G575R

Associated Papers

Sitosterolemia Due to a New Combination of ABCG8 Variants Presenting as Hemolytic Anemia and Macrothrombocytopenia.

Anum et al.

Jcem Case Reports, 2025

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

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

A functional steroid-binding element in an ATP-binding cassette multidrug transporter.

Velamakanni S et al.

Molecular Pharmacology, 2008

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

Buch S et al.

Nature Genetics, 2007

A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

Pandit B et al.

Bmc Medical Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."