CYP2A6 c.1427A>G ;(p.K476R)

Variant ID: 19-41349759-T-C

NM_000762.5(CYP2A6):c.1427A>G;(p.K476R)

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: rs6413474
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: K476R; rs6413474
PubMed Link: 36068297
Variant Present in the following documents:
  • Main text
  • 41397_2022_Article_288.pdf
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: CYP2A6: K476R
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study.

International Journal Of Environmental Research And Public Health
Pérez-Rubio, Gloria G; López-Flores, Luis Alberto LA; Cupertino, Ana Paula AP; Cartujano-Barrera, Francisco F; Reynales-Shigematsu, Luz Myriam LM; Ramírez, Mariana M; Ellerbeck, Edward F EF; Rodríguez-Bolaños, Rosibel R; Falfan-Valencia, Ramcés R
Publication Date: 2021-06-19

Variant appearance in text: rs6413474
PubMed Link: 34205269
Variant Present in the following documents:
  • Main text
  • ijerph-18-06597.pdf
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: K476R; rs6413474
PubMed Link: 33932402
Variant Present in the following documents:
  • Main text
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: rs6413474
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal
Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM
Publication Date: 2019-04

Variant appearance in text: CYP2A6: K476R; rs6413474
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
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: K476R; rs6413474
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: Lys476Arg
PubMed Link: 28507465
Variant Present in the following documents:
  • Main text
  • EXCLI-16-174.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: K476R; rs6413474
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: rs6413474
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: rs6413474
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism.

Plos Genetics
Loukola, Anu A; Buchwald, Jadwiga J; Gupta, Richa R; Palviainen, Teemu T; Hällfors, Jenni J; Tikkanen, Emmi E; Korhonen, Tellervo T; Ollikainen, Miina M; Sarin, Antti-Pekka AP; Ripatti, Samuli S; Lehtimäki, Terho T; Raitakari, Olli O; Salomaa, Veikko V; Rose, Richard J RJ; Tyndale, Rachel F RF; Kaprio, Jaakko J
Publication Date: 2015

Variant appearance in text: CYP2A6: K476R; rs6413474
PubMed Link: 26407342
Variant Present in the following documents:
  • Main text
  • pgen.1005498.pdf
View BVdb publication page



Inhibitory potency of 8-methoxypsoralen on cytochrome P450 2A6 (CYP2A6) allelic variants CYP2A6 15, CYP2A6 16, CYP2A6 21 and CYP2A6 22: differential susceptibility due to different sequence locations of the mutations.

Plos One
Tiong, Kai Hung KH; Mohammed Yunus, Nafees Ahemad NA; Yiap, Beow Chin BC; Tan, Eng Lai EL; Ismail, Rusli R; Ong, Chin Eng CE
Publication Date: 2014

Variant appearance in text: CYP2A6: K476R
PubMed Link: 24475091
Variant Present in the following documents:
  • Main text
  • pone.0086230.pdf
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: rs6413474
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: K476R; rs6413474
PubMed Link: 21597399
Variant Present in the following documents:
  • Main text
View BVdb publication page