CYP2A6 c.383G>T ;(p.R128L)

Variant ID: 19-41354629-C-A

NM_000762.5(CYP2A6):c.383G>T;(p.R128L)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: CYP2A6: R128L
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites
Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF
Publication Date: 2023-01-16

Variant appearance in text: rs4986891
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Association of TLR4 Rs4986791 Polymorphism and TLR9 Haplotypes with Acute Myeloid Leukemia Susceptibility: A Case-Control Study of Adult Patients.

Journal Of Personalized Medicine
Banescu, Claudia C; Tripon, Florin F; Bojan, Anca S AS; Trifa, Adrian P AP; Muntean, Carmen C; Crauciuc, George Andrei GA; Boglis, Alina A; Candea, Marcela M; Lazar, Erzsebet E; Jimbu, Laura L; Iancu, Mihaela M
Publication Date: 2022-03-06

Variant appearance in text: rs4986891
PubMed Link: 35330409
Variant Present in the following documents:
  • jpm-12-00409.pdf
View BVdb publication page



Deciphering Structural Alterations Associated with Activity Reductions of Genetic Polymorphisms in Cytochrome P450 2A6 Using Molecular Dynamics Simulations.

International Journal Of Molecular Sciences
Kato, Koichi K; Nakayoshi, Tomoki T; Nokura, Rika R; Hosono, Hiroki H; Hiratsuka, Masahiro M; Ishikawa, Yoshinobu Y; Kurimoto, Eiji E; Oda, Akifumi A
Publication Date: 2021-09-19

Variant appearance in text: CYP2A6: R128L
PubMed Link: 34576282
Variant Present in the following documents:
  • Main text
  • ijms-22-10119.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: CYP2A6: 383G>T; R128L; rs4986891
PubMed Link: 34476898
Variant Present in the following documents:
  • Main text
  • CTS-15-204.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: CYP2A6: 383G>T; R128L; rs4986891
PubMed Link: 34476898
Variant Present in the following documents:
  • Main text
  • CTS-15-204.pdf
View BVdb publication page



Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.

Birth Defects Research
Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lee, Cecilia C; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM
Publication Date: 2021-05-15

Variant appearance in text: rs4986891
PubMed Link: 33569925
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A
Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM
Publication Date: 2018-05

Variant appearance in text: rs4986891
PubMed Link: 29681089
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs4986891
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Distribution of polymorphic variants of CYP2A6 and their involvement in nicotine addiction.

Excli Journal
López-Flores, Luis A LA; Pérez-Rubio, Gloria G; Falfán-Valencia, Ramcés R
Publication Date: 2017

Variant appearance in text: CYP2A6: Arg128Leu
PubMed Link: 28507465
Variant Present in the following documents:
  • Main text
  • EXCLI-16-174.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: CYP2A6: R128L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics
Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM
Publication Date: 2016-01-19

Variant appearance in text: rs4986891
PubMed Link: 26785747
Variant Present in the following documents:
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs4986891
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs4986891
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs4986891
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6.

Human Molecular Genetics
Bloom, A Joseph AJ; Harari, Oscar O; Martinez, Maribel M; Madden, Pamela A F PA; Martin, Nicholas G NG; Montgomery, Grant W GW; Rice, John P JP; Murphy, Sharon E SE; Bierut, Laura J LJ; Goate, Alison A
Publication Date: 2012-07-01

Variant appearance in text: rs4986891
PubMed Link: 22451501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs4986891
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page