UGT1A1 c.247T>C ;(p.F83L)

Variant ID: 2-234669180-T-C

NM_000463.2(UGT1A1):c.247T>C;(p.F83L)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Comprehensive analysis of important pharmacogenes in Koreans using the DMETâ„¢ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: UGT1A1: 247T>C; F83L; rs56059937
PubMed Link: 34621706
Variant Present in the following documents:
  • Main text
  • tcp-29-135-s001.xls, sheet 1
  • tcp-29-135.pdf
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: UGT1A1: 247T>C; F83L; rs56059937
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Establishment of the experimental procedure for prediction of conjugation capacity in mutant UGT1A1.

Plos One
Takaoka, Yutaka Y; Takeuchi, Atsuko A; Sugano, Aki A; Miura, Kenji K; Ohta, Mika M; Suzuki, Takashi T; Kobayashi, Daisuke D; Kimura, Takuji T; Sato, Juichi J; Ban, Nobutaro N; Nishio, Hisahide H; Sakaeda, Toshiyuki T
Publication Date: 2019

Variant appearance in text: UGT1A1: 247T>C; F83L
PubMed Link: 31730632
Variant Present in the following documents:
  • Main text
  • pone.0225244.pdf
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: UGT1A1: 247T>C; F83L; rs56059937
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs56059937
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: N/A
PubMed Link: 26206375
Variant Present in the following documents:
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs56059937
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs56059937
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



New insights in bilirubin metabolism and their clinical implications.

World Journal Of Gastroenterology
Sticova, Eva E; Jirsa, Milan M
Publication Date: 2013-10-14

Variant appearance in text: UGT1A1: F83L
PubMed Link: 24151358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.

The Aaps Journal
Di, Yuan Ming YM; Chan, Eli E; Wei, Ming Qian MQ; Liu, Jun-Ping JP; Zhou, Shu-Feng SF
Publication Date: 2009-09

Variant appearance in text: UGT1A1: Phe83Leu
PubMed Link: 19572200
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: UGT1A1: F83L
PubMed Link: 18547414
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.

Bmc Evolutionary Biology
Li, Can C; Wu, Qiang Q
Publication Date: 2007-05-02

Variant appearance in text: UGT1A1: F83L
PubMed Link: 17475008
Variant Present in the following documents:
  • 1471-2148-7-69.pdf
View BVdb publication page



Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI).

Nucleic Acids Research
Zhou, Guo-Hua GH; Gotou, Mari M; Kajiyama, Tomoharu T; Kambara, Hideki H
Publication Date: 2005-09-01

Variant appearance in text: UGT1A1: 247T>C
PubMed Link: 16141191
Variant Present in the following documents:
  • Main text
View BVdb publication page