CYP2A6 c.1191T>C ;(p.S397=)

Variant ID: 19-41350648-A-G

NM_000762.5(CYP2A6):c.1191T>C;(p.S397=)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A CYPome-wide study reveals new potential players in the pathogenesis of Parkinson's disease.

Frontiers In Pharmacology
Hartz, Philip P; Fehlmann, Tobias T; Wagenpfeil, Gudrun G; Unger, Marcus Michael MM; Bernhardt, Rita R
Publication Date: 2022

Variant appearance in text: rs28399461
PubMed Link: 36744208
Variant Present in the following documents:
  • Main text
  • fphar-13-1094265.pdf
View BVdb publication page



Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science
El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF
Publication Date: 2021-09-03

Variant appearance in text: rs28399461
PubMed Link: 34476898
Variant Present in the following documents:
  • CTS-15-204-s001.pdf
View BVdb publication page



Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science
El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF
Publication Date: 2022-01

Variant appearance in text: rs28399461
PubMed Link: 34476898
Variant Present in the following documents:
  • CTS-15-204-s001.pdf
View BVdb publication page



Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 2A6 in a Tibetan Chinese population.

International Journal Of Clinical And Experimental Pathology
Xia, Ridong R; Zhu, Xikai X; Chen, Zhengshuai Z; He, Yongjun Y; Kang, Longli L; Yuan, Dongya D; Jin, Tianbo T; Wang, Li L
Publication Date: 2018

Variant appearance in text: CYP2A6: Ser397=; rs28399461
PubMed Link: 31949579
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: CYP2A6: 1191T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs28399461
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Nature Communications
Ma, Xiaotu X; Edmonson, Michael M; Yergeau, Donald D; Muzny, Donna M DM; Hampton, Oliver A OA; Rusch, Michael M; Song, Guangchun G; Easton, John J; Harvey, Richard C RC; Wheeler, David A DA; Ma, Jing J; Doddapaneni, HarshaVardhan H; Vadodaria, Bhavin B; Wu, Gang G; Nagahawatte, Panduka P; Carroll, William L WL; Chen, I-Ming IM; Gastier-Foster, Julie M JM; Relling, Mary V MV; Smith, Malcolm A MA; Devidas, Meenakshi M; Guidry Auvil, Jaime M JM; Downing, James R JR; Loh, Mignon L ML; Willman, Cheryl L CL; Gerhard, Daniela S DS; Mullighan, Charles G CG; Hunger, Stephen P SP; Zhang, Jinghui J
Publication Date: 2015-03-19

Variant appearance in text: CYP2A6: S397S
PubMed Link: 25790293
Variant Present in the following documents:
  • ncomms7604-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CYP2A6: S397S; rs28399461
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page