CYP2A6 c.1252A>G ;(p.N418D)

Variant ID: 19-41350587-T-C

NM_000762.5(CYP2A6):c.1252A>G;(p.N418D)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Pharmacogenetics of CYP2A6, CYP2B6, and UGT2B7 in the Context of HIV Treatments in African Populations.

Journal Of Personalized Medicine
Ford, Graeme R GR; Niehaus, Antoinette A; Joubert, Fourie F; Pepper, Michael S MS
Publication Date: 2022-12-05

Variant appearance in text: rs28399463
PubMed Link: 36556234
Variant Present in the following documents:
  • Main text
  • jpm-12-02013.pdf
View BVdb publication page



The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal
Zhou, Yitian Y; Lauschke, Volker M VM
Publication Date: 2022-12

Variant appearance in text: CYP2A6: N418D; rs28399463
PubMed Link: 36068297
Variant Present in the following documents:
  • Main text
  • 41397_2022_Article_288.pdf
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: CYP2A6: 1252A>G
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
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: N418D
PubMed Link: 34576282
Variant Present in the following documents:
  • Main text
  • ijms-22-10119.pdf
View BVdb publication page



Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Frontiers In Oncology
Zhang, Shirong S; Xu, Yang Y; Zhao, Pan P; Bao, Hua H; Wang, Xiyong X; Liu, Rui R; Xu, Rujun R; Xiang, Jingjing J; Jiang, Hong H; Yan, Junrong J; Wu, Xue X; Shao, Yang Y; Liang, Jiafeng J; Wu, Qiong Q; Zhang, Zhihao Z; Lu, Shun S; Ma, Shenglin S
Publication Date: 2021

Variant appearance in text: CYP2A6: 1252A>G; N418D
PubMed Link: 34221970
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Biochemistry of nicotine metabolism and its relevance to lung cancer.

The Journal Of Biological Chemistry
Murphy, Sharon E SE
Publication Date: 2021

Variant appearance in text: CYP2A6: N418D
PubMed Link: 33932402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy
Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP
Publication Date: 2021-06-17

Variant appearance in text: CYP2A6: N418D; rs28399463
PubMed Link: 33875422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in CYP2A6 Activity and Personalized Medicine.

Journal Of Personalized Medicine
Tanner, Julie-Anne JA; Tyndale, Rachel F RF
Publication Date: 2017-12-01

Variant appearance in text: CYP2A6: N418D; rs28399463
PubMed Link: 29194389
Variant Present in the following documents:
  • Main text
  • jpm-07-00018.pdf
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: Asn418Asp
PubMed Link: 28507465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers.

Scientific Reports
Polimanti, Renato R; Jensen, Kevin P KP; Gelernter, Joel J
Publication Date: 2017-04-21

Variant appearance in text: CYP2A6: N418D; rs28399463
PubMed Link: 28432340
Variant Present in the following documents:
  • 41598_2017_1098_MOESM1_ESM.pdf
View BVdb publication page



Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics
Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM
Publication Date: 2017-10

Variant appearance in text: CYP2A6: N418D; rs28399463
PubMed Link: 28378927
Variant Present in the following documents:
  • Main text
  • CPT-102-688.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: rs28399463
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: rs28399463
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, 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: rs28399463
PubMed Link: 22451501
Variant Present in the following documents:
  • Main text
View BVdb publication page



The contribution of common CYP2A6 alleles to variation in nicotine metabolism among European-Americans.

Pharmacogenetics And Genomics
Bloom, Joseph J; Hinrichs, Anthony L AL; Wang, Jen C JC; von Weymarn, Linda B LB; Kharasch, Evan D ED; Bierut, Laura J LJ; Goate, Alison A; Murphy, Sharon E SE
Publication Date: 2011-07

Variant appearance in text: CYP2A6: N418D; rs28399463
PubMed Link: 21597399
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatic CYP2A6 levels and nicotine metabolism: impact of genetic, physiological, environmental, and epigenetic factors.

European Journal Of Clinical Pharmacology
Al Koudsi, Nael N; Hoffmann, Ewa B EB; Assadzadeh, Abbas A; Tyndale, Rachel F RF
Publication Date: 2010-03

Variant appearance in text: CYP2A6: N418D
PubMed Link: 20012030
Variant Present in the following documents:
  • Main text
View BVdb publication page