ATP7B c.*1172G>A

Variant ID: 13-52507720-C-T

NM_000053.3(ATP7B):c.*1172G>A

This variant was identified in 11 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: rs1051332
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A Custom-Made Newborn Screening Test for Wilson's Disease in Puerto Rico.

Cureus
Vicario-Feliciano, Raquel R; Hernández-Hernández, Cristal I CI; Camacho-Pastor, Ivonne C IC; Martínez-Cruzado, Juan C JC
Publication Date: 2022-04

Variant appearance in text: rs1051332
PubMed Link: 35637795
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000024446.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: rs1051332
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Evaluation of polymorphisms in microRNA-binding sites and pancreatic cancer risk in Chinese population.

Journal Of Cellular And Molecular Medicine
Ke, Juntao J; Peng, Xiating X; Mei, Shufang S; Tian, Jianbo J; Ying, Pingting P; Yang, Nan N; Wang, Xiaoyang X; Zou, Danyi D; Yang, Yang Y; Zhu, Ying Y; Gong, Yajie Y; Gong, Jing J; Zhong, Rong R; Chang, Jiang J; Fang, Zemin Z; Miao, Xiaoping X
Publication Date: 2020-02

Variant appearance in text: rs1051332
PubMed Link: 31880394
Variant Present in the following documents:
  • Main text
  • JCMM-24-2252.pdf
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: rs1051332
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Gene expression and single nucleotide polymorphism of ATP7B are associated with platinum-based chemotherapy response in non-small cell lung cancer patients.

Journal Of Cancer
Li, Yue-Qin YQ; Chen, Juan J; Yin, Ji-Ye JY; Liu, Zhao-Qian ZQ; Li, Xiang-Ping XP
Publication Date: 2018

Variant appearance in text: rs1051332
PubMed Link: 30310510
Variant Present in the following documents:
  • Main text
  • jcav09p3532.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: rs1051332
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs1051332
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: rs1051332
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: rs1051332
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.

Rejuvenation Research
Squitti, Rosanna R; Polimanti, Renato R; Bucossi, Serena S; Ventriglia, Mariacarla M; Mariani, Stefania S; Manfellotto, Dario D; Vernieri, Fabrizio F; Cassetta, Emanuele E; Ursini, Francesca F; Rossini, Paolo Maria PM
Publication Date: 2013-02

Variant appearance in text: rs1051332
PubMed Link: 22950421
Variant Present in the following documents:
  • Main text
View BVdb publication page