ABCB11 c.*420A>G

Variant ID: 2-169779712-T-C

NM_003742.2(ABCB11):c.*420A>G

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs496550
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients.

Journal Of Clinical Medicine
Estrada, Natalia N; Zamora, Lurdes L; Ferrer-Marín, Francisca F; Palomo, Laura L; García, Olga O; Vélez, Patricia P; De la Fuente, Iris I; Sagüés, Miguel M; Cabezón, Marta M; Cortés, Montserrat M; Vallansot, Rolando Omar RO; Senín-Magán, María Alicia MA; Boqué, Concepción C; Xicoy, Blanca B
Publication Date: 2022-10-21

Variant appearance in text: rs496550
PubMed Link: 36294538
Variant Present in the following documents:
  • Main text
  • jcm-11-06217.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: rs496550
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy.

Clinical Pharmacology And Therapeutics
Davis, Brittney H BH; Beasley, T Mark TM; Amaral, Michelle M; Szaflarski, Jerzy P JP; Gaston, Tyler T; Perry Grayson, Leslie L; Standaert, David G DG; Bebin, E Martina EM; Limdi, Nita A NA; ,
Publication Date: 2021-11

Variant appearance in text: rs496550
PubMed Link: 34464454
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: rs496550
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs496550
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs496550
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
View BVdb publication page



Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.

Computational And Mathematical Methods In Medicine
Wu, Baolin B; Pankow, James S JS
Publication Date: 2018

Variant appearance in text: rs496550
PubMed Link: 29743933
Variant Present in the following documents:
  • 2564531.f1.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs496550
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Pharmacogenomic Study Reveals New Variants of Drug Metabolizing Enzyme and Transporter Genes Associated with Steady-State Plasma Concentrations of Risperidone and 9-Hydroxyrisperidone in Thai Autism Spectrum Disorder Patients.

Frontiers In Pharmacology
Medhasi, Sadeep S; Pinthong, Darawan D; Pasomsub, Ekawat E; Vanwong, Natchaya N; Ngamsamut, Nattawat N; Puangpetch, Apichaya A; Chamnanphon, Monpat M; Hongkaew, Yaowaluck Y; Pratoomwun, Jirawat J; Limsila, Penkhae P; Sukasem, Chonlaphat C
Publication Date: 2016

Variant appearance in text: rs496550
PubMed Link: 28018217
Variant Present in the following documents:
  • Main text
  • fphar-07-00475.pdf
View BVdb publication page



Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Oncotarget
Di Martino, Maria Teresa MT; Scionti, Francesca F; Sestito, Simona S; Nicoletti, Angela A; Arbitrio, Mariamena M; Hiram Guzzi, Pietro P; Talarico, Valentina V; Altomare, Federica F; Sanseviero, Maria Teresa MT; Agapito, Giuseppe G; Pisani, Antonio A; Riccio, Eleonora E; Borrelli, Osvaldo O; Concolino, Daniela D; Pensabene, Licia L
Publication Date: 2016-12-27

Variant appearance in text: rs496550
PubMed Link: 27825144
Variant Present in the following documents:
  • Main text
  • oncotarget-07-85895.pdf
View BVdb publication page



Role of polymorphic bile salt export pump (BSEP, ABCB11) transporters in anti-tuberculosis drug-induced liver injury in a Chinese cohort.

Scientific Reports
Chen, Ru R; Wang, Jing J; Tang, Shaowen S; Zhang, Yuan Y; Lv, Xiaozhen X; Wu, Shanshan S; Yang, Zhirong Z; Xia, Yinyin Y; Chen, Dafang D; Zhan, Siyan S
Publication Date: 2016-06-13

Variant appearance in text: rs496550
PubMed Link: 27293027
Variant Present in the following documents:
  • Main text
  • srep27750.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs496550
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs496550
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs496550
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page