ATM c.5953A>G ;(p.T1985A)

Variant ID: 11-108183172-A-G

NM_000051.3(ATM):c.5953A>G;(p.T1985A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Frontiers In Oncology
Guan, Tao T; Zhang, Min M; Liu, Xiaolan X; Li, Jing J; Xin, Beibei B; Ren, Yanxin Y; Yang, Yuchao Y; Wang, Hui H; Zhao, Mengjing M; Huang, Yunpeng Y; Guo, Xiaojing X; Du, Jun J; Qian, Wenbin W; Su, Liping L
Publication Date: 2022

Variant appearance in text: ATM: T1985A
PubMed Link: 36465410
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 4
View BVdb publication page



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: 5953A>G; T1985A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: ATM: 5953A>G; Thr1985Ala
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Regulation of the DNA Damage Response by DNA-PKcs Inhibitory Phosphorylation of ATM.

Molecular Cell
Zhou, Yi Y; Lee, Ji-Hoon JH; Jiang, Wenxia W; Crowe, Jennie L JL; Zha, Shan S; Paull, Tanya T TT
Publication Date: 2017-01-05

Variant appearance in text: ATM: T1985A
PubMed Link: 27939942
Variant Present in the following documents:
  • Main text
View BVdb publication page