NR1I2 c.443G>A ;(p.R148Q)

Variant ID: 3-119530497-G-A

NM_003889.3(NR1I2):c.443G>A;(p.R148Q)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Insights into the critical role of the PXR in preventing carcinogenesis and chemotherapeutic drug resistance.

International Journal Of Biological Sciences
Niu, Xiaxia X; Wu, Ting T; Li, Gege G; Gu, Xinsheng X; Tian, Yanan Y; Cui, Hongmei H
Publication Date: 2022

Variant appearance in text: PXR: R148Q
PubMed Link: 35002522
Variant Present in the following documents:
  • Main text
  • ijbsv18p0742.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMETâ„¢ 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: NR1I2: 443G>A; R148Q; rs72551373
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
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: rs72551373
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Tryptophan 299 is a conserved residue of human pregnane X receptor critical for the functional consequence of ligand binding.

Biochemical Pharmacology
Banerjee, Monimoy M; Chai, Sergio C SC; Wu, Jing J; Robbins, Delira D; Chen, Taosheng T
Publication Date: 2016-03-15

Variant appearance in text: PXR: R148Q
PubMed Link: 26902414
Variant Present in the following documents:
  • Main text
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: NR1I2: R148Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: rs72551373
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
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: rs72551373
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Role of pregnane X receptor in chemotherapeutic treatment.

Cancer Chemotherapy And Pharmacology
Zhuo, Wei W; Hu, Lei L; Lv, Jinfeng J; Wang, Hongbing H; Zhou, Honghao H; Fan, Lan L
Publication Date: 2014-08

Variant appearance in text: PXR: R148Q
PubMed Link: 24889719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pregnane X receptor is required for interleukin-6-mediated down-regulation of cytochrome P450 3A4 in human hepatocytes.

Toxicology Letters
Yang, Jian J; Hao, Chunshu C; Yang, Dongfang D; Shi, Deshi D; Song, Xiulong X; Luan, Xiaofei X; Hu, Gang G; Yan, Bingfang B
Publication Date: 2010-09-01

Variant appearance in text: PXR: R148Q
PubMed Link: 20538049
Variant Present in the following documents:
  • Main text
View BVdb publication page



The steroid and xenobiotic receptor (SXR), beyond xenobiotic metabolism.

Nuclear Receptor Signaling
Zhou, Changcheng C; Verma, Suman S; Blumberg, Bruce B
Publication Date: 2009

Variant appearance in text: SXR: R148Q
PubMed Link: 19240808
Variant Present in the following documents:
  • Main text
  • nrs07001000.pdf
View BVdb publication page



Impact of the haplotypes of the human pregnane X receptor gene on the basal and St John's wort-induced activity of cytochrome P450 3A4 enzyme.

British Journal Of Clinical Pharmacology
Wang, Xue-Ding XD; Li, Jia-Li JL; Su, Qi-Biao QB; Guan, Su S; Chen, Jie J; Du, Jun J; He, Yu-Wen YW; Zeng, Jun J; Zhang, Jin-Xin JX; Chen, Xiao X; Huang, Min M; Zhou, Shu-Feng SF
Publication Date: 2009-02

Variant appearance in text: PXR: R148Q
PubMed Link: 19173680
Variant Present in the following documents:
  • Main text
View BVdb publication page



The far and distal enhancers in the CYP3A4 gene co-ordinate the proximal promoter in responding similarly to the pregnane X receptor but differentially to hepatocyte nuclear factor-4alpha.

The Biochemical Journal
Liu, Fu-Jun FJ; Song, Xiulong X; Yang, Dongfang D; Deng, Ruitang R; Yan, Bingfang B
Publication Date: 2008-01-01

Variant appearance in text: PXR: R148Q
PubMed Link: 17764444
Variant Present in the following documents:
  • Main text
View BVdb publication page