SLCO1B1 c.733A>G ;(p.I245V)

Variant ID: 12-21349885-A-G

NM_006446.4(SLCO1B1):c.733A>G;(p.I245V)

This variant was identified in 10 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: I245V
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: SLCO1B1: I245V
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy
Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP
Publication Date: 2021-06-17

Variant appearance in text: OATP1B1: I245V; rs11045852
PubMed Link: 33875422
Variant Present in the following documents:
  • Main text
View BVdb publication page



SLCO1B1: Application and Limitations of Deep Mutational Scanning for Genomic Missense Variant Function.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Zhang, Lingxin L; Sarangi, Vivekananda V; Ho, Ming-Fen MF; Moon, Irene I; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard M RM
Publication Date: 2021-05

Variant appearance in text: SLCO1B1: 733A>G; rs11045852
PubMed Link: 33658230
Variant Present in the following documents:
  • Main text
  • dmd.120.000264.pdf
View BVdb publication page



Rheostat positions: A new classification of protein positions relevant to pharmacogenomics.

Medicinal Chemistry Research : An International Journal For Rapid Communications On Design And Mechanisms Of Action Of Biologically Active Agents
Fenton, Aron W AW; Page, Braelyn M BM; Spellman-Kruse, Arianna A; Hagenbuch, Bruno B; Swint-Kruse, Liskin L
Publication Date: 2020-07

Variant appearance in text: OATP1B1: 733A>G
PubMed Link: 32641900
Variant Present in the following documents:
  • Main text
  • 44_2020_Article_2582.pdf
View BVdb publication page



Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics
Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE
Publication Date: 2020-01

Variant appearance in text: rs11045852
PubMed Link: 31306493
Variant Present in the following documents:
  • CPT-107-203-s004.pdf
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: rs11045852
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Interindividual and interethnic variability in drug disposition: polymorphisms in organic anion transporting polypeptide 1B1 (OATP1B1; SLCO1B1).

British Journal Of Clinical Pharmacology
Lee, Hannah H HH; Ho, Richard H RH
Publication Date: 2017-06

Variant appearance in text: SLCO1B1: 733A>G; rs11045852
PubMed Link: 27936281
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs11045852
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: SLCO1B1: I245V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page