Varaico: Literature-Extracted Genetic Variants

Gene:UGT3A1
Variant:p.C121G
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UGT3A1

NM_152404.4:p.C121G

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

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

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

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

Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.

Abdel-Khalik J et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2021

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.

Maekawa M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

Yousri NA et al.

Nature Communications, 2018

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Mazzacuva F et al.

Febs Letters, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A091-01A.domain

UGT3A: novel UDP-glycosyltransferases of the UGT superfamily.

Meech R et al.

Drug Metabolism Reviews, 2010

Identification of UDP glycosyltransferase 3A1 as a UDP N-acetylglucosaminyltransferase.

Mackenzie PI et al.

The Journal of Biological Chemistry, 2008

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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."