ABCC4 c.2326G>A ;(p.V776I)

Variant ID: 13-95813572-C-T

NM_005845.3(ABCC4):c.2326G>A;(p.V776I)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ABCC4: V776I
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Models for Understanding Resistance to Chemotherapy in Liver Cancer.

Cancers
Marin, Jose J G JJG; Herraez, Elisa E; Lozano, Elisa E; Macias, Rocio I R RIR; Briz, Oscar O
Publication Date: 2019-10-29

Variant appearance in text: MRP4: V776I
PubMed Link: 31671735
Variant Present in the following documents:
  • Main text
  • cancers-11-01677.pdf
View BVdb publication page



A Human ABC Transporter ABCC4 Gene SNP (rs11568658, 559 G > T, G187W) Reduces ABCC4-Dependent Drug Resistance.

Cells
Tsukamoto, Megumi M; Yamashita, Miho M; Nishi, Tsuyoshi T; Nakagawa, Hiroshi H
Publication Date: 2019-01-10

Variant appearance in text: ABCC4: V776I; rs146708960
PubMed Link: 30634695
Variant Present in the following documents:
  • Main text
  • cells-08-00039.pdf
View BVdb publication page



Revisiting the Role of Thiopurines in Inflammatory Bowel Disease Through Pharmacogenomics and Use of Novel Methods for Therapeutic Drug Monitoring.

Frontiers In Pharmacology
Lim, Sheng Zhang SZ; Chua, Eng Wee EW
Publication Date: 2018

Variant appearance in text: rs146708960
PubMed Link: 30349479
Variant Present in the following documents:
  • Main text
  • fphar-09-01107.pdf
View BVdb publication page



Individual susceptibility to arsenic-induced diseases: the role of host genetics, nutritional status, and the gut microbiome.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society
Chi, Liang L; Gao, Bei B; Tu, Pengcheng P; Liu, Chih-Wei CW; Xue, Jingchuan J; Lai, Yunjia Y; Ru, Hongyu H; Lu, Kun K
Publication Date: 2018-02

Variant appearance in text: MRP4: V776I
PubMed Link: 29429126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantitative Evaluation of Drug Resistance Profile of Cells Expressing Wild-Type or Genetic Polymorphic Variants of the Human ABC Transporter ABCC4.

International Journal Of Molecular Sciences
Tsukamoto, Megumi M; Sato, Shiori S; Satake, Kazuhiro K; Miyake, Mizuki M; Nakagawa, Hiroshi H
Publication Date: 2017-07-04

Variant appearance in text: rs146708960
PubMed Link: 28677646
Variant Present in the following documents:
  • Main text
  • ijms-18-01435.pdf
View BVdb publication page



The Promise of Pharmacogenomics in Reducing Toxicity During Acute Lymphoblastic Leukemia Maintenance Treatment.

Genomics, Proteomics & Bioinformatics
Rudin, Shoshana S; Marable, Marcus M; Huang, R Stephanie RS
Publication Date: 2017-04

Variant appearance in text: ABCC4: V776I
PubMed Link: 28391009
Variant Present in the following documents:
  • Main text
  • main.pdf
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: ABCC4: Val776Ile; rs146708960
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: V776I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page