CYP1A2 c.1367G>A ;(p.R456H)

Variant ID: 15-75047245-G-A

NM_000761.3(CYP1A2):c.1367G>A;(p.R456H)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes.

Scientific Reports
Ohnami, Sumiko S; Naruoka, Akane A; Isaka, Mitsuhiro M; Mizuguchi, Maki M; Nakatani, Sou S; Kamada, Fukumi F; Shimoda, Yuji Y; Sakai, Ai A; Ohshima, Keiichi K; Hatakeyama, Keiichi K; Maruyama, Kouji K; Ohde, Yasuhisa Y; Kenmotsu, Hirotsugu H; Takahashi, Toshiaki T; Akiyama, Yasuto Y; Nagashima, Takeshi T; Urakami, Kenichi K; Ohnami, Shumpei S; Yamaguchi, Ken K
Publication Date: 2022-10-26

Variant appearance in text: CYP1A2: Arg456His; rs72547517
PubMed Link: 36289279
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_22914.pdf
View BVdb publication page



"Commandeuring" Xenobiotic Metabolism: Advances in Understanding Xenobiotic Metabolism.

Chemical Research In Toxicology
van Vugt-Lussenburg, Barbara M A BMA; Capinha, Liliana L; Reinen, Jelle J; Rooseboom, Martijn M; Kranendonk, Michel M; Onderwater, Rob C A RCA; Jennings, Paul P
Publication Date: 2022-07-18

Variant appearance in text: CYP1A2: R456H
PubMed Link: 35768066
Variant Present in the following documents:
  • Main text
  • tx2c00067.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: CYP1A2: R456H; rs72547517
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Functional Characterization of 21 Rare Allelic CYP1A2 Variants Identified in a Population of 4773 Japanese Individuals by Assessing Phenacetin O-Deethylation.

Journal Of Personalized Medicine
Kumondai, Masaki M; Gutiérrez Rico, Evelyn Marie EM; Hishinuma, Eiji E; Nakanishi, Yuya Y; Yamazaki, Shuki S; Ueda, Akiko A; Saito, Sakae S; Tadaka, Shu S; Kinoshita, Kengo K; Saigusa, Daisuke D; Nakayoshi, Tomoki T; Oda, Akifumi A; Hirasawa, Noriyasu N; Hiratsuka, Masahiro M
Publication Date: 2021-07-22

Variant appearance in text: CYP1A2: Arg456His
PubMed Link: 34442334
Variant Present in the following documents:
  • jpm-11-00690.pdf
View BVdb publication page



In silico screening and analysis of nonsynonymous SNPs in human CYP1A2 to assess possible associations with pathogenicity and cancer susceptibility.

Scientific Reports
Navapour, Leila L; Mogharrab, Navid N
Publication Date: 2021-03-02

Variant appearance in text: CYP1A2: R456H
PubMed Link: 33654112
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_83696.pdf
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: CYP1A2: R456H; rs72547517
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
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: CYP1A2: R456H; rs72547517
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease.

Neurology
Fujimaki, Motoki M; Saiki, Shinji S; Li, Yuanzhe Y; Kaga, Naoko N; Taka, Hikari H; Hatano, Taku T; Ishikawa, Kei-Ichi KI; Oji, Yutaka Y; Mori, Akio A; Okuzumi, Ayami A; Koinuma, Takahiro T; Ueno, Shin-Ichi SI; Imamichi, Yoko Y; Ueno, Takashi T; Miura, Yoshiki Y; Funayama, Manabu M; Hattori, Nobutaka N
Publication Date: 2018-01-30

Variant appearance in text: rs72547517
PubMed Link: 29298852
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2017821272.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs72547517
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: CYP1A2: R456H; rs72547517
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CYP1A2: 1367G>A; R456H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: CYP1A2: R456H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs72547517
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Functional Significance of Cytochrome P450 1A2 Allelic Variants, P450 1A2*8, *15, and *16 (R456H, P42R, and R377Q).

Biomolecules & Therapeutics
Lim, Young-Ran YR; Kim, In-Hyeok IH; Han, Songhee S; Park, Hyoung-Goo HG; Ko, Mi-Jung MJ; Chun, Young-Jin YJ; Yun, Chul-Ho CH; Kim, Donghak D
Publication Date: 2015-03

Variant appearance in text: CYP1A2: R456H
PubMed Link: 25767688
Variant Present in the following documents:
  • bt-23-189.pdf
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs72547517
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: CYP1A2: R456H; rs72547517
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activation of aflatoxin B1 by expression of human CYP1A2 polymorphisms in Saccharomyces cerevisiae.

Mutation Research. Genetic Toxicology And Environmental Mutagenesis
Fasullo, Michael M; Smith, Autumn A; Egner, Patricia P; Cera, Cinzia C
Publication Date: 2014-02

Variant appearance in text: CYP1A2: R456H
PubMed Link: 24472830
Variant Present in the following documents:
  • Main text
View BVdb publication page