ABCC4 c.1492A>G ;(p.K498E)

Variant ID: 13-95839008-T-C

NM_005845.3(ABCC4):c.1492A>G;(p.K498E)

This variant was identified in 5 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: Lys498Glu; rs11568669
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: rs11568669
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: ABCC4: K498E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: K498E
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: K498E; rs11568669
PubMed Link: 18364470
Variant Present in the following documents:
  • Main text
View BVdb publication page