SLC47A1 c.373C>T ;(p.L125F)

Variant ID: 17-19451364-C-T

NM_018242.2(SLC47A1):c.373C>T;(p.L125F)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


The association study between changes in HbA1C with rs2250486 and rs67238751 genetic variants for SLC47A1 in newly diagnosed Iranian patients with type 2 diabetes mellitus: 6 months follow-up study.

Endocrinology, Diabetes & Metabolism
Semnani, Armina A; Kazerouni, Faranak F; Kalbasi, Saeid S; Shahrokhi, Seyedeh Zahra SZ; Rahimipour, Ali A
Publication Date: 2023-02-14

Variant appearance in text: rs77474263
PubMed Link: 36786075
Variant Present in the following documents:
  • Main text
  • EDM2-6-e410.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: SLC47A1: L125F; rs77474263
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09

Variant appearance in text: SLC47A1: L125F; rs77474263
PubMed Link: 34635181
Variant Present in the following documents:
  • 40364_2021_330_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Remdesivir and COVID-19.

Lancet (London, England)
Wang, Lei-Yun LY; Cui, Jia-Jia JJ; Ouyang, Qian-Ying QY; Zhan, Yan Y; Guo, Cheng-Xian CX; Yin, Ji-Ye JY
Publication Date: 2020-10-03

Variant appearance in text: rs77474263
PubMed Link: 33010833
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Pharmacogenetics of type 2 diabetes mellitus, the route toward tailored medicine.

Diabetes/Metabolism Research And Reviews
Mannino, Gaia Chiara GC; Andreozzi, Francesco F; Sesti, Giorgio G
Publication Date: 2019-03

Variant appearance in text: SLC47A1: Leu125Phe; rs77474263
PubMed Link: 30515958
Variant Present in the following documents:
  • Main text
  • DMRR-35-na.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: rs77474263
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s006.xlsx, sheet 2
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: SLC47A1: L125F; rs77474263
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



An update on the pharmacogenomics of metformin: progress, problems and potential.

Pharmacogenomics
Todd, Jennifer N JN; Florez, Jose C JC
Publication Date: 2014-03

Variant appearance in text: MATE1: L125F
PubMed Link: 24624919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influences of organic cation transporter polymorphisms on the population pharmacokinetics of metformin in healthy subjects.

The Aaps Journal
Yoon, Hwa H; Cho, Hea-Young HY; Yoo, Hee-Doo HD; Kim, Se-Mi SM; Lee, Yong-Bok YB
Publication Date: 2013-04

Variant appearance in text: MATE1: L125F
PubMed Link: 23417334
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of multidrug and toxin extrusion 1 (MATE1) is associated with metformin-induced lactic acidosis.

British Journal Of Pharmacology
Toyama, K K; Yonezawa, A A; Masuda, S S; Osawa, R R; Hosokawa, M M; Fujimoto, S S; Inagaki, N N; Inui, K K; Katsura, T T
Publication Date: 2012-06

Variant appearance in text: MATE1: L125F
PubMed Link: 22242910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Importance of the multidrug and toxin extrusion MATE/SLC47A family to pharmacokinetics, pharmacodynamics/toxicodynamics and pharmacogenomics.

British Journal Of Pharmacology
Yonezawa, Atsushi A; Inui, Ken-ichi K
Publication Date: 2011-12

Variant appearance in text: SLC47A1: L125F; rs77474263
PubMed Link: 21457222
Variant Present in the following documents:
  • Main text
View BVdb publication page



The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

Clinical Pharmacology And Therapeutics
Kroetz, D L DL; Yee, S W SW; Giacomini, K M KM
Publication Date: 2010-01

Variant appearance in text: MATE1: L125F
PubMed Link: 19940846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function.

The Pharmacogenomics Journal
Chen, Ying Y; Teranishi, Kristen K; Li, Shuanglian S; Yee, Sook Wah SW; Hesselson, Stephanie S; Stryke, Doug D; Johns, Susan J SJ; Ferrin, Thomas E TE; Kwok, Pui P; Giacomini, Kathleen M KM
Publication Date: 2009-04

Variant appearance in text: MATE1: L125F
PubMed Link: 19172157
Variant Present in the following documents:
  • Main text
View BVdb publication page