SLC47A1 c.1490G>T ;(p.C497F)

Variant ID: 17-19480643-G-T

NM_018242.2(SLC47A1):c.1490G>T;(p.C497F)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: SLC47A1: 1490G>T; Cys497Phe; rs35395280
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
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: Cys497Phe; rs35395280
PubMed Link: 30515958
Variant Present in the following documents:
  • Main text
  • DMRR-35-na.pdf
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: C497F; rs35395280
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.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: rs35395280
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: SLC47A1: C497F; rs35395280
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 19
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: rs35395280
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: rs35395280
PubMed Link: 21457222
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: rs35395280
PubMed Link: 19172157
Variant Present in the following documents:
  • Main text
View BVdb publication page