ATM c.2078G>A ;(p.C693Y)

Variant ID: 11-108124720-G-A

NM_000051.3(ATM):c.2078G>A;(p.C693Y)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 2078G>A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ATM: 2078G>A
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.

Oncotarget
Xu, Yuanyuan Y; Li, Yan Y; Xu, Qingyu Q; Chen, Yuelong Y; Lv, Na N; Jing, Yu Y; Dou, Liping L; Bo, Jian J; Hou, Guangyuan G; Guo, Jing J; Wang, Xiuli X; Wang, Lili L; Li, Yonghui Y; Chen, Chongjian C; Yu, Li L
Publication Date: 2017-10-10

Variant appearance in text: ATM: 2078G>A
PubMed Link: 29137279
Variant Present in the following documents:
  • oncotarget-08-82475-s003.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ATM: 2078G>A; C693Y
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.

Scientific Reports
Yu, Yang Y; Dong, Li L; Li, Dapeng D; Chuai, Shaokun S; Wu, Zhigang Z; Zheng, Xiangqian X; Cheng, Yanan Y; Han, Lei L; Yu, Jinpu J; Gao, Ming M
Publication Date: 2015-11-04

Variant appearance in text: ATM: C693Y
PubMed Link: 26530882
Variant Present in the following documents:
  • Main text
  • srep16129.pdf
  • srep16129-s2.xls, sheet 1
View BVdb publication page