ABCC1 c.3140G>C ;(p.C1047S)

Variant ID: 16-16208683-G-C

NM_004996.3(ABCC1):c.3140G>C;(p.C1047S)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs13337489
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 3
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: ABCC1: Cys1047Ser; rs13337489
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine.

Genomics, Proteomics & Bioinformatics
Ahmed, Shabbir S; Zhou, Zhan Z; Zhou, Jie J; Chen, Shu-Qing SQ
Publication Date: 2016-10

Variant appearance in text: ABCC1: C1047S
PubMed Link: 27729266
Variant Present in the following documents:
  • Main text
  • main.pdf
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: rs13337489
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1-MRP1) in the Polish population.

Bmc Genetics
Słomka, Marcin M; Sobalska-Kwapis, Marta M; Korycka-Machała, Małgorzata M; Bartosz, Grzegorz G; Dziadek, Jarosław J; Strapagiel, Dominik D
Publication Date: 2015-09-23

Variant appearance in text: ABCC1: Cys1047Ser; rs13337489
PubMed Link: 26395522
Variant Present in the following documents:
  • Main text
  • 12863_2015_Article_271.pdf
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: ABCC1: C1047S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: ABCC1: C1047S; rs13337489
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
View BVdb publication page



Pharmacogenetics of membrane transporters: a review of current approaches.

Methods In Molecular Biology (Clifton, N.J.)
Sissung, Tristan M TM; Goey, Andrew K L AK; Ley, Ariel M AM; Strope, Jonathan D JD; Figg, William D WD
Publication Date: 2014

Variant appearance in text: ABCC1: C1047S
PubMed Link: 25150868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Non-coding polymorphisms in nucleotide binding domain 1 in ABCC1 gene associate with transcript level and survival of patients with breast cancer.

Plos One
Kunická, Tereza T; Václavíková, Radka R; Hlaváč, Viktor V; Vrána, David D; Pecha, Václav V; Rauš, Karel K; Trnková, Markéta M; Kubáčková, Kateřina K; Ambruš, Miloslav M; Vodičková, Ludmila L; Vodička, Pavel P; Souček, Pavel P
Publication Date: 2014

Variant appearance in text: ABCC1: Cys1047Ser; rs13337489
PubMed Link: 25078270
Variant Present in the following documents:
  • Main text
  • pone.0101740.pdf
View BVdb publication page



Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights
Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE
Publication Date: 2010-10-11

Variant appearance in text: ABCC1: C1047S
PubMed Link: 20981267
Variant Present in the following documents:
  • BBI-4-supplementary.xls, sheet 3
View BVdb publication page



Pharmacogenetics of membrane transporters: an update on current approaches.

Molecular Biotechnology
Sissung, Tristan M TM; Baum, Caitlin E CE; Kirkland, C Tyler CT; Gao, Rui R; Gardner, Erin R ER; Figg, William D WD
Publication Date: 2010-02

Variant appearance in text: ABCC1: C1047S
PubMed Link: 19950006
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: ABCC1: Cys1047Ser
PubMed Link: 18528433
Variant Present in the following documents:
  • Main text
View BVdb publication page