CYP2A6 c.607C>A ;(p.R203S)

Variant ID: 19-41354171-G-T

NM_000762.5(CYP2A6):c.607C>A;(p.R203S)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: CYP2A6: 607C>A; R203S; rs56256500
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
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: rs56256500
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



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: rs56256500
PubMed Link: 36556234
Variant Present in the following documents:
  • Main text
  • jpm-12-02013.pdf
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: N/A
PubMed Link: 30206299
Variant Present in the following documents:
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: Arg203Ser
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: R203S; rs56256500
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: rs56256500
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: CYP2A6: R203S; rs56256500
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 3
View BVdb publication page



Genetic determinants of CYP2A6 activity across racial/ethnic groups with different risks of lung cancer and effect on their smoking intensity.

Carcinogenesis
Park, Sungshim L SL; Tiirikainen, Maarit I MI; Patel, Yesha M YM; Wilkens, Lynne R LR; Stram, Daniel O DO; Le Marchand, Loic L; Murphy, Sharon E SE
Publication Date: 2016-03

Variant appearance in text: rs56256500
PubMed Link: 26818358
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP2A6 genotyping methods and strategies using real-time and end point PCR platforms.

Pharmacogenomics
Wassenaar, Catherine A CA; Zhou, Qian Q; Tyndale, Rachel F RF
Publication Date: 2016

Variant appearance in text: rs56256500
PubMed Link: 26670214
Variant Present in the following documents:
  • Main text
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: rs56256500
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: R203S
PubMed Link: 24475091
Variant Present in the following documents:
  • Main text
  • pone.0086230.pdf
View BVdb publication page



Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.

Frontiers In Genetics
Roco, Angela A; Quiñones, Luis L; Agúndez, José A G JA; García-Martín, Elena E; Squicciarini, Valentina V; Miranda, Carla C; Garay, Joselyn J; Farfán, Nancy N; Saavedra, Iván I; Cáceres, Dante D; Ibarra, Carol C; Varela, Nelson N
Publication Date: 2012

Variant appearance in text: rs56256500
PubMed Link: 23130019
Variant Present in the following documents:
  • Main text
  • fgene-03-00229.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: rs56256500
PubMed Link: 22451501
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel CYP2A6 allele, CYP2A6*23, impairs enzyme function in vitro and in vivo and decreases smoking in a population of Black-African descent.

Pharmacogenetics And Genomics
Ho, Man Ki MK; Mwenifumbo, Jill C JC; Zhao, Bin B; Gillam, Elizabeth M J EM; Tyndale, Rachel F RF
Publication Date: 2008-01

Variant appearance in text: CYP2A6: R203S
PubMed Link: 18216723
Variant Present in the following documents:
  • Main text
View BVdb publication page