CYP2D6 c.635G>A ;(p.G212E)

Variant ID: 22-42524817-C-T

NM_000106.5(CYP2D6):c.635G>A;(p.G212E)

This variant was identified in 6 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: 635G>A; Gly212Glu; rs5030866
PubMed Link: 36068297
Variant Present in the following documents:
  • 41397_2022_288_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology
Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2022

Variant appearance in text: CYP2D6: 635G>A; Gly212Glu; rs5030866
PubMed Link: 35846994
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
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: 635G>A; Gly212Glu
PubMed Link: 27537706
Variant Present in the following documents:
  • NIHMS802548-supplement-Table_S4.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: CYP2D6: 635G>A; G212E
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CYP2D6: G212E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes.

Pharmacogenetics And Genomics
Fohner, Alison A; Muzquiz, LeeAnna I LI; Austin, Melissa A MA; Gaedigk, Andrea A; Gordon, Adam A; Thornton, Timothy T; Rieder, Mark J MJ; Pershouse, Mark A MA; Putnam, Elizabeth A EA; Howlett, Kevin K; Beatty, Patrick P; Thummel, Kenneth E KE; Woodahl, Erica L EL
Publication Date: 2013-08

Variant appearance in text: CYP2D6: G212E
PubMed Link: 23778323
Variant Present in the following documents:
  • Main text
View BVdb publication page