SLCO1B1 c.699G>A ;(p.M233I)

Variant ID: 12-21331926-G-A

NM_006446.4(SLCO1B1):c.699G>A;(p.M233I)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SLCO1B1: M233I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: SLCO1B1: M233I
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
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: SLCO1B1: 699G>A; Met233Ile
PubMed Link: 35846994
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Influence of OATP1B1 and OATP1B3 mutations and glomerular filtration rate on trough serum digoxin concentration in the Chinese population: A prospective cohort study.

Medicine
Chen, Shu-Qing SQ; Ding, Wen-Hui WH; Zhang, Nan N; Xiang, Qian Q; Cui, Yi-Min YM; Zhao, Xia X
Publication Date: 2019-04

Variant appearance in text: OATP1B1: Met233Ile
PubMed Link: 30946364
Variant Present in the following documents:
  • medi-98-e15088.pdf
View BVdb publication page



Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine.

Genomics, Proteomics & Bioinformatics
Ahmed, Shabbir S; Zhou, Zhan Z; Zhou, Jie J; Chen, Shu-Qing SQ
Publication Date: 2016-10

Variant appearance in text: SLCO1B1: M233I
PubMed Link: 27729266
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Pharmacogenetics of membrane transporters: a review of current approaches.

Methods In Molecular Biology (Clifton, N.J.)
Sissung, Tristan M TM; Goey, Andrew K L AK; Ley, Ariel M AM; Strope, Jonathan D JD; Figg, William D WD
Publication Date: 2014

Variant appearance in text: SLCO1B1: M233I
PubMed Link: 25150868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatic organic anion transporting polypeptide transporter and thyroid hormone receptor interplay determines cholesterol and glucose homeostasis.

Hepatology (Baltimore, Md.)
Meyer zu Schwabedissen, Henriette E HE; Ware, Joseph A JA; Finkelstein, David D; Chaudhry, Amarjit S AS; Mansell, Sara S; Leon-Ponte, Matilde M; Strom, Stephen C SC; Zaher, Hani H; Schwarz, Ute I UI; Freeman, David J DJ; Schuetz, Erin G EG; Tirona, Rommel G RG; Kim, Richard B RB
Publication Date: 2011-08

Variant appearance in text: SLCO1B1: 699G>A
PubMed Link: 21538436
Variant Present in the following documents:
  • Main text
View BVdb publication page



Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomy.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Rebbeck, Timothy R TR; Weber, Anita L AL; Walker, Amy H AH; Stefflova, Klara K; Tran, Teo V TV; Spangler, Elaine E; Chang, Bao-Li BL; Zeigler-Johnson, Charnita M CM
Publication Date: 2010-09

Variant appearance in text: OATP1B1: M233I
PubMed Link: 20826827
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetics of membrane transporters: an update on current approaches.

Molecular Biotechnology
Sissung, Tristan M TM; Baum, Caitlin E CE; Kirkland, C Tyler CT; Gao, Rui R; Gardner, Erin R ER; Figg, William D WD
Publication Date: 2010-02

Variant appearance in text: OATP1B1: M233I
PubMed Link: 19950006
Variant Present in the following documents:
  • Main text
View BVdb publication page