ABCC5 c.1782T>A ;(p.C594*)

Variant ID: 3-183685534-A-T

NM_005688.2(ABCC5):c.1782T>A;(p.C594*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Journal Of Clinical Medicine
Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B
Publication Date: 2022-04-28

Variant appearance in text: rs939336
PubMed Link: 35566612
Variant Present in the following documents:
  • jcm-11-02486.pdf
View BVdb publication page



Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine
Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G
Publication Date: 2021

Variant appearance in text: rs939336
PubMed Link: 34007475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: rs939336
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Pharmacogenomic Biomarkers in Docetaxel Treatment of Prostate Cancer: From Discovery to Implementation.

Genes
Varnai, Reka R; Koskinen, Leena M LM; Mäntylä, Laura E LE; Szabo, Istvan I; FitzGerald, Liesel M LM; Sipeky, Csilla C
Publication Date: 2019-08-08

Variant appearance in text: rs939336
PubMed Link: 31398933
Variant Present in the following documents:
  • Main text
  • genes-10-00599.pdf
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: rs939336
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs939336
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs939336
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of novel SNPs associated with risk and prognosis in patients with castration-resistant prostate cancer.

Pharmacogenomics
Sissung, Tristan M TM; Deeken, John J; Leibrand, Crystal R CR; Price, Douglas K DK; Ehrlich, Sheryl S; Steinberg, Seth M SM; Liewehr, David J DJ; Dahut, William W; Figg, William D WD
Publication Date: 2016-12

Variant appearance in text: rs939336
PubMed Link: 27883295
Variant Present in the following documents:
  • Main text
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: rs939336
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: rs939336
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Expression and localization of the multidrug resistance protein 5 (MRP5/ABCC5), a cellular export pump for cyclic nucleotides, in human heart.

The American Journal Of Pathology
Dazert, Peter P; Meissner, Konrad K; Vogelgesang, Silke S; Heydrich, Björn B; Eckel, Lothar L; Böhm, Michael M; Warzok, Rolf R; Kerb, Reinhold R; Brinkmann, Ulrich U; Schaeffeler, Elke E; Schwab, Matthias M; Cascorbi, Ingolf I; Jedlitschky, Gabriele G; Kroemer, Heyo K HK
Publication Date: 2003-10

Variant appearance in text: rs939336
PubMed Link: 14507663
Variant Present in the following documents:
  • Main text
View BVdb publication page