TPMT c.681T>C ;(p.H227=)

Variant ID: 6-18130956-A-G

NM_000367.2(TPMT):c.681T>C;(p.H227=)

This variant was identified in 3 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: rs72552736
PubMed Link: 36344599
Variant Present in the following documents:
  • 41598_2022_23488_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: rs72552736
PubMed Link: 31306493
Variant Present in the following documents:
  • CPT-107-203-s004.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: rs72552736
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page