SLC47A1 c.1012G>A ;(p.V338I)

Variant ID: 17-19463591-G-A

NM_018242.2(SLC47A1):c.1012G>A;(p.V338I)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: SLC47A1: V338I; rs35790011
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: SLC47A1: Val338Ile; rs35790011
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

Nature Communications
Hellwege, Jacklyn N JN; Velez Edwards, Digna R DR; Giri, Ayush A; Qiu, Chengxiang C; Park, Jihwan J; Torstenson, Eric S ES; Keaton, Jacob M JM; Wilson, O D OD; Robinson-Cohen, Cassianne C; Chung, Cecilia P CP; Roumie, Christianne L CL; Klarin, Derek D; Damrauer, Scott M SM; DuVall, Scott L SL; Siew, Edward E; Akwo, Elvis A EA; Wuttke, Matthias M; Gorski, Mathias M; Li, Man M; Li, Yong Y; Gaziano, J Michael JM; Wilson, Peter W F PWF; Tsao, Philip S PS; O'Donnell, Christopher J CJ; Kovesdy, Csaba P CP; Pattaro, Cristian C; Köttgen, Anna A; Susztak, Katalin K; Edwards, Todd L TL; Hung, Adriana M AM
Publication Date: 2019-08-26

Variant appearance in text: rs35790011
PubMed Link: 31451708
Variant Present in the following documents:
  • 41467_2019_11704_MOESM1_ESM.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: Val338Ile; rs35790011
PubMed Link: 30515958
Variant Present in the following documents:
  • Main text
  • DMRR-35-na.pdf
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: SLC47A1: 1012G>A; V338I; rs35790011
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 7
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16
View BVdb publication page



An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal
Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM
Publication Date: 2019-04

Variant appearance in text: SLC47A1: V338I; rs35790011
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: SLC47A1: V338I; rs35790011
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
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: rs35790011
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: rs35790011
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: SLC47A1: V338I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: SLC47A1: V338I; rs35790011
PubMed Link: 24624919
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: V338I; rs35790011
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: V338I; rs35790011
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: V338I; rs35790011
PubMed Link: 19172157
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in drug transporters in ethnic populations.

Clinical Pharmacology And Therapeutics
Cropp, C D CD; Yee, S W SW; Giacomini, K M KM
Publication Date: 2008-09

Variant appearance in text: MATE1: Val338Ile
PubMed Link: 18528433
Variant Present in the following documents:
  • Main text
View BVdb publication page