CYP2D6 c.1094G>A ;(p.R365H)

Variant ID: 22-42523528-C-T

NM_000106.5(CYP2D6):c.1094G>A;(p.R365H)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: CYP2D6: 1094G>A; Arg365His
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
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: CYP2D6: R365H
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: CYP2D6: 1094G>A; R365H; rs1058172
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Genetic Polymorphism of Head and Neck Cancers in African Populations: A Systematic Review.

Oto Open
Okoturo, Eyituoyo E; Osasuyi, Anslem A; Opaleye, Taofiq T
Publication Date: 2020

Variant appearance in text: CYP2D6: R365H
PubMed Link: 32743234
Variant Present in the following documents:
  • Main text
  • 10.1177_2473974X20942202.pdf
View BVdb publication page



A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.

Pharmacogenomics And Personalized Medicine
Calderon-Ospina, Carlos Alberto CA; Hernández-Sómerson, Mario M; García, Ana María AM; Mejia, Adriana A; Tamayo-Agudelo, Caroll C; Laissue, Paul P; Fonseca Mendoza, Dora Janeth DJ
Publication Date: 2020

Variant appearance in text: CYP2D6: 1094G>A; Arg365His; rs1058172
PubMed Link: 32184647
Variant Present in the following documents:
  • Main text
  • pgpm-13-59.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: CYP2D6: 1094G>A; Arg365His
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine
Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY
Publication Date: 2019-12

Variant appearance in text: CYP2D6: 1094G>A; R365H; rs1058172
PubMed Link: 31761620
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
  • mmc1.xlsx, sheet 7
View BVdb publication page



Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.

Clinical And Translational Science
Dalton, Rachel R; Lee, Seung-Been SB; Claw, Katrina G KG; Prasad, Bhagwat B; Phillips, Brian R BR; Shen, Danny D DD; Wong, Lai Hong LH; Fade, Mitch M; McDonald, Matthew G MG; Dunham, Maitreya J MJ; Fowler, Douglas M DM; Rettie, Allan E AE; Schuetz, Erin E; Thornton, Timothy A TA; Nickerson, Deborah A DA; Gaedigk, Andrea A; Thummel, Kenneth E KE; Woodahl, Erica L EL
Publication Date: 2020-01

Variant appearance in text: CYP2D6: R365H; rs1058172
PubMed Link: 31536170
Variant Present in the following documents:
  • Main text
  • CTS-13-147-s006.pdf
  • CTS-13-147.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CYP2D6: 1094G>A; Arg365His; rs1058172
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Genome Medicine
Zhao, Junfei J; Cheng, Feixiong F; Jia, Peilin P; Cox, Nancy N; Denny, Joshua C JC; Zhao, Zhongming Z
Publication Date: 2018-01-29

Variant appearance in text: CYP2D6: R365H; rs1058172
PubMed Link: 29378629
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_513.pdf
  • 13073_2018_513_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports
Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G
Publication Date: 2016-08-22

Variant appearance in text: CYP2D6: R365H
PubMed Link: 27545006
Variant Present in the following documents:
  • srep31628-s2.xls, sheet 2
View BVdb publication page



A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01

Variant appearance in text: CYP2D6: R365H; rs1058172
PubMed Link: 27148581
Variant Present in the following documents:
  • supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1
View BVdb publication page



Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Oncotarget
Patil, Vikas V; Pal, Jagriti J; Somasundaram, Kumaravel K
Publication Date: 2015-12-22

Variant appearance in text: CYP2D6: 1094G>A; R365H
PubMed Link: 26496030
Variant Present in the following documents:
  • oncotarget-06-43452-s003.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: R365H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: CYP2D6: 1094G>A; R365H; rs1058172
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page