CYP2A6 c.391T>G ;(p.S131A)

Variant ID: 19-41354621-A-C

NM_000762.5(CYP2A6):c.391T>G;(p.S131A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: rs59552350
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.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: S131A
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: 2021-09-03

Variant appearance in text: CYP2A6: 391T>G; S131A; rs59552350
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: 2022-01

Variant appearance in text: CYP2A6: 391T>G; S131A; rs59552350
PubMed Link: 34476898
Variant Present in the following documents:
  • Main text
  • CTS-15-204.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: Ser131Ala
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: S131A; rs59552350
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: rs59552350
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: S131A
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
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: rs59552350
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: rs59552350
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: CYP2A6: S131A; rs59552350
PubMed Link: 22451501
Variant Present in the following documents:
  • Main text
View BVdb publication page