ABCC4 c.3211G>A ;(p.V1071I)

Variant ID: 13-95715113-C-T

NM_005845.3(ABCC4):c.3211G>A;(p.V1071I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: ABCC4: Val1071Ile; rs11568653
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society
Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A
Publication Date: 2010-11

Variant appearance in text: ABCC4: V1071I
PubMed Link: 20799350
Variant Present in the following documents:
  • Main text
View BVdb publication page



The human multidrug resistance protein 4 (MRP4, ABCC4): functional analysis of a highly polymorphic gene.

The Journal Of Pharmacology And Experimental Therapeutics
Abla, Nada N; Chinn, Leslie W LW; Nakamura, Tsutomu T; Liu, Li L; Huang, Conrad C CC; Johns, Susan J SJ; Kawamoto, Michiko M; Stryke, Doug D; Taylor, Travis R TR; Ferrin, Thomas E TE; Giacomini, Kathleen M KM; Kroetz, Deanna L DL
Publication Date: 2008-06

Variant appearance in text: ABCC4: V1071I; rs11568653
PubMed Link: 18364470
Variant Present in the following documents:
  • Main text
View BVdb publication page