TPMT c.611T>C ;(p.I204T)

Variant ID: 6-18132378-A-G

NM_000367.2(TPMT):c.611T>C;(p.I204T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics.

Scientific Reports
Saxena, Sidharth S; Krishna Murthy, T P TP; Chandrashekhar, C R CR; Patil, Lavan S LS; Aditya, Abhinav A; Shukla, Rohit R; Yadav, Arvind Kumar AK; Singh, Tiratha Raj TR; Samantaray, Mahesh M; Ramaswamy, Amutha A
Publication Date: 2022-11-07

Variant appearance in text: rs79901429
PubMed Link: 36344599
Variant Present in the following documents:
  • Main text
  • 41598_2022_23488_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_23488_MOESM2_ESM.xlsx, sheet 1
  • 41598_2022_Article_23488.pdf
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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: TPMT: I204T
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics
Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE
Publication Date: 2020-01

Variant appearance in text: rs79901429
PubMed Link: 31306493
Variant Present in the following documents:
  • CPT-107-203-s004.pdf
View BVdb publication page



In Vitro Protein Stability of Two Naturally Occurring Thiopurine S-Methyltransferase Variants: Biophysical Characterization of TPMT*6 and TPMT*8.

Acs Omega
Wennerstrand, Patricia P; Blissing, Annica A; Mårtensson, Lars-Göran LG
Publication Date: 2017-08-31

Variant appearance in text: TPMT: I204T
PubMed Link: 30023734
Variant Present in the following documents:
  • Main text
  • ao7b00801.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: rs79901429
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Nomenclature for alleles of the thiopurine methyltransferase gene.

Pharmacogenetics And Genomics
Appell, Malin L ML; Berg, Jonathan J; Duley, John J; Evans, William E WE; Kennedy, Martin A MA; Lennard, Lynne L; Marinaki, Tony T; McLeod, Howard L HL; Relling, Mary V MV; Schaeffeler, Elke E; Schwab, Matthias M; Weinshilboum, Richard R; Yeoh, Allen E J AE; McDonagh, Ellen M EM; Hebert, Joan M JM; Klein, Teri E TE; Coulthard, Sally A SA
Publication Date: 2013-04

Variant appearance in text: TPMT: Ile204Thr; rs79901429
PubMed Link: 23407052
Variant Present in the following documents:
  • Main text
View BVdb publication page