ABCG2 c.886G>C ;(p.D296H)

Variant ID: 4-89036166-C-G

NM_004827.2(ABCG2):c.886G>C;(p.D296H)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Genetic Predictors of Antipsychotic Efflux Impairment via Blood-Brain Barrier: Role of Transport Proteins.

Genes
Nasyrova, Regina F RF; Shnayder, Natalia A NA; Osipova, Sofia M SM; Khasanova, Aiperi K AK; Efremov, Ilya S IS; Al-Zamil, Mustafa M; Petrova, Marina M MM; Narodova, Ekaterina A EA; Garganeeva, Natalia P NP; Shipulin, German A GA
Publication Date: 2023-05-15

Variant appearance in text: rs41282401
PubMed Link: 37239445
Variant Present in the following documents:
  • genes-14-01085.pdf
View BVdb publication page



RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-01-13

Variant appearance in text: ABCG2: D296H; rs41282401
PubMed Link: 35033986
Variant Present in the following documents:
  • mmc2.xlsx, sheet 13
  • mmc3.xlsx, sheet 11
View BVdb publication page



RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-02

Variant appearance in text: ABCG2: D296H; rs41282401
PubMed Link: 35033986
Variant Present in the following documents:
  • mmc2.xlsx, sheet 13
  • mmc3.xlsx, sheet 11
View BVdb publication page



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: rs41282401
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 5
View BVdb publication page



Medically Important Alterations in Transport Function and Trafficking of ABCG2.

International Journal Of Molecular Sciences
Homolya, László L
Publication Date: 2021-03-10

Variant appearance in text: ABCG2: D296H; rs41282401
PubMed Link: 33801813
Variant Present in the following documents:
  • Main text
  • ijms-22-02786.pdf
View BVdb publication page



Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters
Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY
Publication Date: 2020-12

Variant appearance in text: ABCG2: D296H
PubMed Link: 32978801
Variant Present in the following documents:
  • Main text
  • FEB2-594-4035.pdf
View BVdb publication page



Disruption of the Unique ABCG-Family NBD:NBD Interface Impacts Both Drug Transport and ATP Hydrolysis.

International Journal Of Molecular Sciences
Kapoor, Parth P; Briggs, Deborah A DA; Cox, Megan H MH; Kerr, Ian D ID
Publication Date: 2020-01-23

Variant appearance in text: ABCG2: D296H
PubMed Link: 31979415
Variant Present in the following documents:
  • Main text
  • ijms-21-00759.pdf
View BVdb publication page



PharmGKB summary: very important pharmacogene information for ABCG2.

Pharmacogenetics And Genomics
Fohner, Alison E AE; Brackman, Deanna J DJ; Giacomini, Kathleen M KM; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2017-11

Variant appearance in text: BCRP: 886G>C
PubMed Link: 28858993
Variant Present in the following documents:
  • Main text
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: ABCG2: Asp296His; rs41282401
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: rs41282401
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: ABCG2: D296H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Sequence mutations of the substrate binding pocket of stem cell factor and multidrug resistance protein ABCG2 in renal cell cancer: a possible link to treatment resistance.

Oncology Reports
Zoernig, Inka I; Ziegelmeier, Claudia C; Lahrmann, Bernd B; Grabe, Niels N; Jäger, Dirk D; Halama, Niels N
Publication Date: 2013-05

Variant appearance in text: rs41282401
PubMed Link: 23467750
Variant Present in the following documents:
  • Main text
  • or-29-05-1697.pdf
View BVdb publication page



Moving out: from sterol transport to drug resistance - the ABCG subfamily of efflux pumps.

Drug Metabolism And Drug Interactions
Moitra, Karobi K; Silverton, Latoya L; Limpert, Katy K; Im, Kate K; Dean, Michael M
Publication Date: 2011

Variant appearance in text: ABCG2: D296H; rs41282401
PubMed Link: 21942345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Key Role of Human ABC Transporter ABCG2 in Photodynamic Therapy and Photodynamic Diagnosis.

Advances In Pharmacological Sciences
Ishikawa, Toshihisa T; Nakagawa, Hiroshi H; Hagiya, Yuichiro Y; Nonoguchi, Naosuke N; Miyatake, Shin-Ichi S; Kuroiwa, Toshihiko T
Publication Date: 2010

Variant appearance in text: ABCG2: D296H
PubMed Link: 21188243
Variant Present in the following documents:
  • APS2010-587306.pdf
View BVdb publication page