CYP2D6 c.1319G>A ;(p.R440H)

Variant ID: 22-42522751-C-T

NM_000106.5(CYP2D6):c.1319G>A;(p.R440H)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: CYP2D6: 1319G>A; Arg440His; rs267608319
PubMed Link: 36068297
Variant Present in the following documents:
  • 41397_2022_288_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Interaction Between Florfenicol and Doxycycline Involving Cytochrome P450 3A in Goats (Capra hricus).

Frontiers In Veterinary Science
Wang, Xiaojing X; Yang, Yaqin Y; Martínez, María-Aránzazu MA; Martínez, Marta M; Lopez-Torres, Bernardo B; Martínez-Larrañaga, María-Rosa MR; Wang, Xu X; Anadón, Arturo A; Ares, Irma I
Publication Date: 2021

Variant appearance in text: CYP2D6: Arg440His
PubMed Link: 34733909
Variant Present in the following documents:
  • fvets-08-759716.pdf
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: CYP2D6: R440H
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Interaction Modes of Microsomal Cytochrome P450s with Its Reductase and the Role of Substrate Binding.

International Journal Of Molecular Sciences
Esteves, Francisco F; Urban, Philippe P; Rueff, José J; Truan, Gilles G; Kranendonk, Michel M
Publication Date: 2020-09-11

Variant appearance in text: CYP2D6: Arg440His
PubMed Link: 32933097
Variant Present in the following documents:
  • ijms-21-06669.pdf
View BVdb publication page



Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science
Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L
Publication Date: 2021-01

Variant appearance in text: CYP2D6: 1319G>A; Arg440His; rs267608319
PubMed Link: 32931151
Variant Present in the following documents:
  • CTS-14-204-s001.xlsx, sheet 1
View BVdb publication page



Feasibility of Integrating Panel-Based Pharmacogenomics Testing for Chemotherapy and Supportive Care in Patients With Colorectal Cancer.

Technology In Cancer Research & Treatment
Kasi, Pashtoon Murtaza PM; Koep, Tyler T; Schnettler, Erica E; Shahjehan, Faisal F; Kamatham, Vaishnavi V; Baldeo, Candice C; Hughes, Caren L CL
Publication Date: 2019-01-01

Variant appearance in text: CYP2D6: 1319G>A; rs267608319
PubMed Link: 31533552
Variant Present in the following documents:
  • OneOme_sample_comprehensive_report.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: CYP2D6: R440H; rs267608319
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: CYP2D6: 1319G>A
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ng, David D; Hong, Celine S CS; Singh, Larry N LN; Johnston, Jennifer J JJ; Mullikin, James C JC; Biesecker, Leslie G LG
Publication Date: 2017-03

Variant appearance in text: CYP2D6: 1319G>A; Arg440His
PubMed Link: 27537706
Variant Present in the following documents:
  • NIHMS802548-supplement-Table_S4.pdf
View BVdb publication page



Pharmacogenetics of healthy volunteers in Puerto Rico.

Drug Metabolism And Personalized Therapy
Claudio-Campos, Karla K; Orengo-Mercado, Carmelo C; Renta, Jessicca Y JY; Peguero, Muriel M; García, Ricardo R; Hernández, Gabriel G; Corey, Susan S; Cadilla, Carmen L CL; Duconge, Jorge J
Publication Date: 2015-12

Variant appearance in text: CYP2D6: R440H
PubMed Link: 26501165
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular dynamics simulations give insight into the conformational change, complex formation, and electron transfer pathway for cytochrome P450 reductase.

Protein Science : A Publication Of The Protein Society
Sündermann, Axel A; Oostenbrink, Chris C
Publication Date: 2013-09

Variant appearance in text: CYP2D6: R440H
PubMed Link: 23832577
Variant Present in the following documents:
  • Main text
View BVdb publication page