SLC22A4 c.615G>A ;(p.M205I)

Variant ID: 5-131649424-G-A

NM_003059.2(SLC22A4):c.615G>A;(p.M205I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: SLC22A4: 615G>A; Met205Ile
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.

Journal Of Personalized Medicine
Lozano, Elisa E; Briz, Oscar O; Macias, Rocio I R RIR; Serrano, Maria A MA; Marin, Jose J G JJG; Herraez, Elisa E
Publication Date: 2018-04-16

Variant appearance in text: SLC22A4: 615G>A
PubMed Link: 29659532
Variant Present in the following documents:
  • Main text
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: rs11568500
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: OCTN1: M205I; rs11568500
PubMed Link: 19940846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional genomics of membrane transporters in human populations.

Genome Research
Urban, Thomas J TJ; Sebro, Ronnie R; Hurowitz, Evan H EH; Leabman, Maya K MK; Badagnani, Ilaria I; Lagpacan, Leah L LL; Risch, Neil N; Giacomini, Kathleen M KM
Publication Date: 2006-02

Variant appearance in text: OCTN1: M205I
PubMed Link: 16354753
Variant Present in the following documents:
  • Main text
View BVdb publication page