Varaico: Literature-Extracted Genetic Variants

Gene:ABCB5
Variant:p.G810V
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ABCB5

NM_001163941.2:p.G810V

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

The Addis Ababa Lions: Whole-Genome Sequencing of a Rare and Precious Population.

Barazandeh M et al.

Genome Biology and Evolution, 2024

38302110 (PubMed )
Supplement: evae021_supplementary_data.zip › Supp-tables-20231102.xlsx › Table_S7

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma.

Leung IC et al.

Journal of Cellular and Molecular Medicine, 2020

ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

López-Fernández LA

Journal of Personalized Medicine, 2018

30563187 (PubMed )
Supplement: jpm-08-00040-s001.xlsx › Hoja1

Novel genes and variants associated with IgA nephropathy by co-segregating with the disease phenotypes in 10 IgAN families.

Liu R et al.

Gene, 2015

The role of Abcb5 alleles in susceptibility to haloperidol-induced toxicity in mice and humans.

Zheng M et al.

Plos Medicine, 2015

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

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

Molecular evolutionary analysis of ABCB5: the ancestral gene is a full transporter with potentially deleterious single nucleotide polymorphisms.

Moitra K et al.

Plos One, 2011

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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."