Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.A144V
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UGT1A8

NM_019076.5:p.A144V

Associated Papers

Effects of common genetic variants of human uridine diphosphate glucuronosyltransferase subfamilies on irinotecan glucuronidation.

Tagawa K et al.

Toxicology Mechanisms and Methods, 2023

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

In Vitro Study on Influences of UGT1A8 Gene Polymorphisms on Mycophenolate Mofetil Metabolism.

Zhou Z et al.

Experimental and Clinical Transplantation : Official Journal of the Middle East Society for Organ Transplantation, 2018

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 884.336

Influence of nonsynonymous polymorphisms of UGT1A8 and UGT2B7 metabolizing enzymes on the formation of phenolic and acyl glucuronides of mycophenolic acid.

Bernard O et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2006

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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."