CYP2B6 c.1190A>G ;(p.H397R)

Variant ID: 19-41518616-A-G

NM_000767.4(CYP2B6):c.1190A>G;(p.H397R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: CYP2B6: 1190A>G; His397Arg; rs150072531
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: CYP2B6: H397R
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

Scientific Reports
Zakerska-Banaszak, Oliwia O; Skrzypczak-Zielinska, Marzena M; Tamowicz, Barbara B; Mikstacki, Adam A; Walczak, Michal M; Prendecki, Michal M; Dorszewska, Jolanta J; Pollak, Agnieszka A; Lechowicz, Urszula U; Oldak, Monika M; Huminska-Lisowska, Kinga K; Molinska-Glura, Marta M; Szalata, Marlena M; Slomski, Ryszard R
Publication Date: 2017-11-13

Variant appearance in text: CYP2B6: H397R; rs150072531
PubMed Link: 29133890
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_15657.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CYP2B6: 1190A>G; H397R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.

The Pharmacogenomics Journal
Martis, S S; Mei, H H; Vijzelaar, R R; Edelmann, L L; Desnick, R J RJ; Scott, S A SA
Publication Date: 2013-12

Variant appearance in text: CYP2B6: H397R
PubMed Link: 23164804
Variant Present in the following documents:
  • Main text
  • nihms414574.pdf
View BVdb publication page