Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.C223Y
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UGT1A1

NM_000463.3:p.C223Y

Associated Papers

p.Cys223Tyr mutation causing Crigler-Najjar syndrome type II.

Xiong QF et al.

Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2020

The UGTome: The expanding diversity of UDP glycosyltransferases and its impact on small molecule metabolism.

Hu DG et al.

Pharmacology & Therapeutics, 2019

Protein-protein interactions between the bilirubin-conjugating UDP-glucuronosyltransferase UGT1A1 and its shorter isoform 2 regulatory partner derived from alternative splicing.

Rouleau M et al.

The Biochemical Journal, 2013

[From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II].

Drenth JP et al.

Nederlands Tijdschrift Voor Geneeskunde, 2002

Homodimerization of human bilirubin-uridine-diphosphoglucuronate glucuronosyltransferase-1 (UGT1A1) and its functional implications.

Ghosh SS et al.

The Journal of Biological Chemistry, 2001

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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."