UGT1A1 c.1456T>C ;(p.Y486H)

Variant ID: 2-234681059-T-C

NM_000463.2(UGT1A1):c.1456T>C;(p.Y486H)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites
Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF
Publication Date: 2023-01-16

Variant appearance in text: rs34993780
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Single-Cell Transcriptome Analysis Uncovers Intratumoral Heterogeneity and Underlying Mechanisms for Drug Resistance in Hepatobiliary Tumor Organoids.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Zhao, Yan Y; Li, Zhi-Xuan ZX; Zhu, Yan-Jing YJ; Fu, Jing J; Zhao, Xiao-Fang XF; Zhang, Ya-Ni YN; Wang, Shan S; Wu, Jian-Min JM; Wang, Kai-Ting KT; Wu, Rui R; Sui, Cheng-Jun CJ; Shen, Si-Yun SY; Wu, Xuan X; Wang, Hong-Yang HY; Gao, Dong D; Chen, Lei L
Publication Date: 2021-06

Variant appearance in text: UGT1A7: Y483H; rs34993780
PubMed Link: 34105295
Variant Present in the following documents:
  • ADVS-8-2003897-s001.xlsx, sheet 10
  • ADVS-8-2003897-s001.xlsx, sheet 9
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Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs34993780
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical And Translational Science
Borobia, Alberto M AM; Dapia, Irene I; Tong, Hoi Y HY; Arias, Pedro P; Muñoz, Mario M; Tenorio, Jair J; Hernández, Rafael R; García García, Irene I; Gordo, Gema G; Ramírez, Elena E; Frías, Jesús J; Lapunzina, Pablo P; Carcas, Antonio J AJ
Publication Date: 2018-03

Variant appearance in text: rs34993780
PubMed Link: 29193749
Variant Present in the following documents:
  • Main text
  • CTS-11-189.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: rs34993780
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling.

Frontiers In Pharmacology
Chua, Eng Wee EW; Cree, Simone L SL; Ton, Kim N T KN; Lehnert, Klaus K; Shepherd, Phillip P; Helsby, Nuala N; Kennedy, Martin A MA
Publication Date: 2016

Variant appearance in text: rs34993780
PubMed Link: 26858644
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics
Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM
Publication Date: 2016-01-19

Variant appearance in text: rs34993780
PubMed Link: 26785747
Variant Present in the following documents:
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: rs34993780
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive variant screening of the UGT gene family.

Yonsei Medical Journal
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD
Publication Date: 2014-01

Variant appearance in text: rs34993780
PubMed Link: 24339312
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Genetics Research International
Rahim, Fakher F; Galehdari, Hamid H; Mohammadi-Asl, Javad J; Saki, Najmaldin N
Publication Date: 2013

Variant appearance in text: rs34993780
PubMed Link: 23997956
Variant Present in the following documents:
  • Main text
  • GRI2013-546909.pdf
View BVdb publication page



Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

International Journal Of Molecular Epidemiology And Genetics
Galehdari, Hamid H; Saki, Najmaldin N; Mohammadi-Asl, Javad J; Rahim, Fakher F
Publication Date: 2013

Variant appearance in text: rs34993780
PubMed Link: 23875061
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: rs34993780
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page