UGT1A1 c.1184G>T ;(p.G395V)

Variant ID: 2-234676965-G-T

NM_000463.2(UGT1A1):c.1184G>T;(p.G395V)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


The Somatic Mutation Landscape of UDP-Glycosyltransferase (UGT) Genes in Human Cancers.

Cancers
Hu, Dong Gui DG; Marri, Shashikanth S; Hulin, Julie-Ann JA; McKinnon, Ross A RA; Mackenzie, Peter I PI; Meech, Robyn R
Publication Date: 2022-11-21

Variant appearance in text: UGT1A7: 1175G>T; Gly392Val
PubMed Link: 36428799
Variant Present in the following documents:
  • Main text
  • cancers-14-05708.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: UGT1A7: 1175G>T; G392V; rs367897068
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: UGT1A3: G396V
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.

Nature Communications
Bailey, Matthew H MH; Meyerson, William U WU; Dursi, Lewis Jonathan LJ; Wang, Liang-Bo LB; Dong, Guanlan G; Liang, Wen-Wei WW; Weerasinghe, Amila A; Li, Shantao S; Li, Yize Y; Kelso, Sean S; , ; , ; Saksena, Gordon G; Ellrott, Kyle K; Wendl, Michael C MC; Wheeler, David A DA; Getz, Gad G; Simpson, Jared T JT; Gerstein, Mark B MB; Ding, Li L; ,
Publication Date: 2020-09-21

Variant appearance in text: UGT1A10: 1175G>T; G392V
PubMed Link: 32958763
Variant Present in the following documents:
  • 41467_2020_18151_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: UGT1A3: G396V
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



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: rs367897068
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: rs367897068
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: G395V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: UGT1A1: G395V
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
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: Gly395Val
PubMed Link: 19572200
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: G395V
PubMed Link: 17475008
Variant Present in the following documents:
  • 1471-2148-7-69.pdf
View BVdb publication page