ABCG2 c.1195-60A>T

Variant ID: 4-89028478-T-A

NM_004827.2(ABCG2):c.1195-60A>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2231148
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study.

Clinical And Translational Medicine
Xiang, Qian Q; Xie, Qiufen Q; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Zhang, Yatong Y; Zhao, Zinan Z; Yuan, Dongdong D; Guo, Liping L; Wang, Na N; Xiang, Jing J; Song, Hongtao H; Sun, Jianjun J; Jiang, Jie J; Cui, Yimin Y
Publication Date: 2022-12

Variant appearance in text: rs2231148
PubMed Link: 36453946
Variant Present in the following documents:
  • Main text
View BVdb publication page



PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Npj Genomic Medicine
Yu, Chih-Chuan CC; Lee, An-Fu AF; Kohl, Stefen S; Lin, Ming-Yen MY; Cheng, Siao Muk SM; Hung, Chi-Chih CC; Chang, Jer-Ming JM; Chiu, Yi-Wen YW; Hwang, Shang-Jyh SJ; Otto, Edgar A EA; Hildebrandt, Friedhelm F; , ; Hwang, Daw-Yang DY
Publication Date: 2022-07-01

Variant appearance in text: rs2231148
PubMed Link: 35778421
Variant Present in the following documents:
  • Main text
  • 41525_2022_Article_309.pdf
View BVdb publication page



Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2020-07-01

Variant appearance in text: rs2231148
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
View BVdb publication page



Impact of NR1I2, adenosine triphosphate-binding cassette transporters genetic polymorphisms on the pharmacokinetics of ginsenoside compound K in healthy Chinese volunteers.

Journal Of Ginseng Research
Zhou, Luping L; Chen, Lulu L; Wang, Yaqin Y; Huang, Jie J; Yang, Guoping G; Tan, Zhirong Z; Wang, Yicheng Y; Liao, Jianwei J; Zhou, Gan G; Hu, Kai K; Li, Zhenyu Z; Ouyang, Dongsheng D
Publication Date: 2019-07

Variant appearance in text: rs2231148
PubMed Link: 31308818
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2231148
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression.

Pharmacogenetics And Genomics
Eclov, Rachel J RJ; Kim, Mee J MJ; Chhibber, Aparna A; Smith, Robin P RP; Ahituv, Nadav N; Kroetz, Deanna L DL
Publication Date: 2017-12

Variant appearance in text: rs2231148
PubMed Link: 28930109
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive analysis of the association of common variants of ABCG2 with gout.

Scientific Reports
Yu, Kuang-Hui KH; Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Wu-Chou, Yah-Huei YH; Wu, Li-An LA; Chen, Ding-Pin DP; Lo, Fu-Sung FS; Lu, Jang-Jih JJ
Publication Date: 2017-08-30

Variant appearance in text: rs2231148
PubMed Link: 28855613
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10196.pdf
View BVdb publication page