ABCC1 c.218C>T ;(p.T73I)

Variant ID: 16-16101842-C-T

NM_004996.3(ABCC1):c.218C>T;(p.T73I)

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: rs41494447
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 3
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: ABCC1: 218C>T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: ABCC1: 218C>T; Thr73Met
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_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: ABCC1: Thr73Ile; rs41494447
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: T73I
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: rs41494447
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: ABCC1: T73I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: T73I
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: Thr73Ile; rs41494447
PubMed Link: 25078270
Variant Present in the following documents:
  • Main text
  • pone.0101740.pdf
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: T73I
PubMed Link: 19950006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization and analyses of multidrug resistance-associated protein 1 (MRP1/ABCC1) polymorphisms in Chinese population.

Pharmacogenetics And Genomics
Yin, Ji-Ye JY; Huang, Qiong Q; Yang, Youyun Y; Zhang, Jian-Ting JT; Zhong, Mei-Zuo MZ; Zhou, Hong-Hao HH; Liu, Zhao-Qian ZQ
Publication Date: 2009-03

Variant appearance in text: rs41494447
PubMed Link: 19214144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.

Bmc Genomics
Wang, Zihua Z; Sew, Pui-Hoon PH; Ambrose, Helen H; Ryan, Stephen S; Chong, Samuel S SS; Lee, Edmund J D EJ; Lee, Caroline G L CG
Publication Date: 2006-05-10

Variant appearance in text: ABCC1: T73I
PubMed Link: 16684361
Variant Present in the following documents:
  • 1471-2164-7-111.pdf
View BVdb publication page