SLCO1B1 c.633A>G ;(p.I211M)

Variant ID: 12-21331860-A-G

NM_006446.4(SLCO1B1):c.633A>G;(p.I211M)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Functional Characterization of Six SLCO1B1 (OATP1B1) Variants Observed in Finnish Individuals with a Psychotic Disorder.

Molecular Pharmaceutics
Häkkinen, Katja K; Kiander, Wilma W; Kidron, Heidi H; Lähteenvuo, Markku M; Urpa, Lea L; Lintunen, Jonne J; Vellonen, Kati-Sisko KS; Auriola, Seppo S; Holm, Minna M; Lahdensuo, Kaisla K; Kampman, Olli O; Isometsä, Erkki E; Kieseppä, Tuula T; Lönnqvist, Jouko J; Suvisaari, Jaana J; Hietala, Jarmo J; Tiihonen, Jari J; Palotie, Aarno A; Ahola-Olli, Ari V AV; Niemi, Mikko M
Publication Date: 2023-02-13

Variant appearance in text: SLCO1B1: 633A>G; rs201722521
PubMed Link: 36779498
Variant Present in the following documents:
  • Main text
  • mp2c00715_si_001.pdf
  • mp2c00715.pdf
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: SLCO1B1: I211M; rs201722521
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Pharmacogenomic landscape of COVID-19 therapies from Indian population genomes.

Pharmacogenomics
Sahana, S S; Sivadas, Ambily A; Mangla, Mohit M; Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; Vidhya, A K AK; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; Devi, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya, J Ezhil JE; Devi, P Nirmala PN; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Prakash, Savinitha S; Joshi, Kandarp K; Kumla, Meya M; Sreedevi, S S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; Binukumar, B K BK; Sivasubbu, Sridhar S; Scaria, Vinod V
Publication Date: 2021-07

Variant appearance in text: rs201722521
PubMed Link: 34142560
Variant Present in the following documents:
  • pgs-2021-0028.pdf
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: 633A>G; rs201722521
PubMed Link: 33658230
Variant Present in the following documents:
  • Main text
  • dmd.120.000264.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: SLCO1B1: I211M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: SLCO1B1: Ile211Met; rs201722521
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089.pdf
  • fpc-27-089-s006.xlsx, sheet 2
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: SLCO1B1: 633A>G; I211M
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page