ATM c.130G>A ;(p.D44N)

Variant ID: 11-108098560-G-A

NM_000051.3(ATM):c.130G>A;(p.D44N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: ATM: D44N
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: ATM: 130G>A
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s8.xls, sheet 4
View BVdb publication page



The genetic landscape of dural marginal zone lymphomas.

Oncotarget
Ganapathi, Karthik A KA; Jobanputra, Vaidehi V; Iwamoto, Fabio F; Jain, Preti P; Chen, Jinli J; Cascione, Luciano L; Nahum, Odelia O; Levy, Brynn B; Xie, Yi Y; Khattar, Pallavi P; Hoehn, Daniela D; Bertoni, Francesco F; Murty, Vundavalli V VV; Pittaluga, Stefania S; Jaffe, Elaine S ES; Alobeid, Bachir B; Mansukhani, Mahesh M MM; Bhagat, Govind G
Publication Date: 2016-07-12

Variant appearance in text: ATM: 130G>A; D44N
PubMed Link: 27248180
Variant Present in the following documents:
  • oncotarget-07-43052-s003.xlsx, sheet 1
View BVdb publication page



Role of Pseudomonas aeruginosa low-molecular-mass penicillin-binding proteins in AmpC expression, β-lactam resistance, and peptidoglycan structure.

Antimicrobial Agents And Chemotherapy
Ropy, Alaa A; Cabot, Gabriel G; Sánchez-Diener, Irina I; Aguilera, Cristian C; Moya, Bartolome B; Ayala, Juan A JA; Oliver, Antonio A
Publication Date: 2015-07

Variant appearance in text: ATM: D44N
PubMed Link: 25896695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting of p300/CREB binding protein coactivators by simian virus 40 is mediated through p53.

Journal Of Virology
Borger, Darrell R DR; DeCaprio, James A JA
Publication Date: 2006-05

Variant appearance in text: ATM: D44N
PubMed Link: 16611888
Variant Present in the following documents:
  • Main text
View BVdb publication page



SV40 T antigen interacts with Nbs1 to disrupt DNA replication control.

Genes & Development
Wu, Xiaohua X; Avni, Dror D; Chiba, Takuya T; Yan, Feng F; Zhao, Qiping Q; Lin, Yafang Y; Heng, Henry H; Livingston, David D
Publication Date: 2004-06-01

Variant appearance in text: ATM: D44N
PubMed Link: 15175262
Variant Present in the following documents:
  • Main text
View BVdb publication page