ATM c.140C>G ;(p.S47*)

Variant ID: 11-108098570-C-G

NM_000051.3(ATM):c.140C>G;(p.S47*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 140C>G; Ser47Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: ATM: S47*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Durvalumab Plus Olaparib in Previously Untreated, Platinum-Ineligible Patients With Metastatic Urothelial Carcinoma: A Multicenter, Randomized, Phase II Trial (BAYOU).

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Rosenberg, Jonathan E JE; Park, Se Hoon SH; Kozlov, Vadim V; Dao, Tu V TV; Castellano, Daniel D; Li, Jian-Ri JR; Mukherjee, Som D SD; Howells, Kathryn K; Dry, Hannah H; Lanasa, Mark C MC; Stewart, Ross R; Bajorin, Dean F DF
Publication Date: 2022-06-23

Variant appearance in text: ATM: S47*
PubMed Link: 35737919
Variant Present in the following documents:
  • jco-41-043.pdf
View BVdb publication page



Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: ATM: 140C>G; Ser47Ter; rs774185390
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS3.xlsx, sheet 1
  • LSA-2021-01319_TableS1.xlsx, sheet 1
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: 140C>G; Ser47Ter; rs774185390
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Clonal evolution in liver cancer at single-cell and single-variant resolution.

Journal Of Hematology & Oncology
Su, Xianbin X; Zhao, Linan L; Shi, Yi Y; Zhang, Rui R; Long, Qi Q; Bai, Shihao S; Luo, Qing Q; Lin, Yingxin Y; Zou, Xin X; Ghazanfar, Shila S; Tao, Kun K; Yang, Guoliang G; Wang, Lan L; He, Kun-Yan KY; Cui, Xiaofang X; He, Jian J; Wu, Jiao-Xiang JX; Han, Bo B; Yan, Bin B; Deng, Biao B; Wang, Na N; Li, Xiaolin X; Yang, Pengyi P; Hou, Shangwei S; Sun, Jielin J; Yang, Jean Y H JYH; Chen, Jinhong J; Han, Ze-Guang ZG
Publication Date: 2021-02-02

Variant appearance in text: ATM: S47*
PubMed Link: 33531041
Variant Present in the following documents:
  • 13045_2021_1036_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page