UGT1A1 c.1388A>C ;(p.E463A)

Variant ID: 2-234680991-A-C

NM_000463.2(UGT1A1):c.1388A>C;(p.E463A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: rs72551358
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: rs72551358
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: rs72551358
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: E463A; rs72551358
PubMed Link: 23875061
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: Glu463Ala
PubMed Link: 19572200
Variant Present in the following documents:
  • Main text
View BVdb publication page