UGT1A1 c.674T>G ;(p.V225G)

Variant ID: 2-234669607-T-G

NM_000463.2(UGT1A1):c.674T>G;(p.V225G)

This variant was identified in 14 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: rs35003977
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Common UGT1A6 Variant Alleles Determine Acetaminophen Pharmacokinetics in Man.

Journal Of Personalized Medicine
Cerezo-Arias, María de Las Olas MLO; Gómez-Tabales, Javier J; Martí, Manuel M; García-Martín, Elena E; Agúndez, José A G JAG
Publication Date: 2022-04-29

Variant appearance in text: UGT1A1: Val225Gly; rs35003977
PubMed Link: 35629143
Variant Present in the following documents:
  • Main text
  • jpm-12-00720.pdf
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: UGT1A1: 674T>G; Val225Gly; rs35003977
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: UGT1A1: V225G; rs35003977
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: UGT1A1: 674T>G; Val225Gly
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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: 674T>G; Val225Gly; rs35003977
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.

Plos One
Gupta, Neha N; Benjamin, Mercilena M; Kar, Anjana A; Munjal, Sachin Dev SD; Sarangi, Aditya N AN; Dalal, Ashwin A; Aggarwal, Rakesh R
Publication Date: 2015

Variant appearance in text: UGT1A1: 674T>G; Val225Gly; rs35003977
PubMed Link: 26716871
Variant Present in the following documents:
  • Main text
  • pone.0145967.pdf
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: rs35003977
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: UGT1A1: V225G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article.

Medicine
Oussalah, Abderrahim A; Bosco, Paolo P; Anello, Guido G; Spada, Rosario R; Guéant-Rodriguez, Rosa-Maria RM; Chery, Céline C; Rouyer, Pierre P; Josse, Thomas T; Romano, Antonino A; Elia, Maurizzio M; Bronowicki, Jean-Pierre JP; Guéant, Jean-Louis JL
Publication Date: 2015-06

Variant appearance in text: UGT1A1: Val225Gly; rs35003977
PubMed Link: 26039129
Variant Present in the following documents:
  • Main text
  • medi-94-e925.pdf
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: UGT1A1: V225G; rs35003977
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
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: rs35003977
PubMed Link: 24339312
Variant Present in the following documents:
  • ymj-55-232.pdf
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: UGT1A1: V225G; rs35003977
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: UGT1A1: V225G; rs35003977
PubMed Link: 23875061
Variant Present in the following documents:
  • Main text
View BVdb publication page