Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.G493R
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UGT1A1

NM_000463.3:p.G493R

Associated Papers

The Association between Prolonged Jaundice and UGT1A1 Gene Polymorphism (G71R) in Gilbert's Syndrome.

Alaee E et al.

Journal of Clinical and Diagnostic Research : Jcdr, 2016

Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.

Rodrigues C et al.

Human Mutation, 2015

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

Li L et al.

Plos One, 2015

25993113 (PubMed )
Supplement: pone.0126263.s002.docx

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

Canu G et al.

Blood Cells, Molecules & Diseases, 2013

Association between UGT 1A1 Gly71Arg (G71R) polymorphism and neonatal hyperbilirubinemia.

Prachukthum S et al.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2012

Neonatal hyperbilirubinemia and G71R mutation of the UGT1A1 gene in Turkish patients.

Narter F et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2011

A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population.

Yusoff S et al.

Pediatric Research, 2010

UGT1A1 haplotype mutation among Asians in Singapore.

Zhou YY et al.

Neonatology, 2009

Evaluation of mutation effects on UGT1A1 activity toward 17beta-estradiol using liquid chromatography-tandem mass spectrometry.

Wada K et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2006

Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population.

Yusoff S et al.

Biology of the Neonate, 2006

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