ATM c.6070G>A ;(p.G2024R)

Variant ID: 11-108186613-G-A

NM_000051.3(ATM):c.6070G>A;(p.G2024R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ATM: G2024R
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: ATM: G2024R
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.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: 6070G>A; G2024R
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07

Variant appearance in text: ATM: 6070G>A; Gly2024Arg
PubMed Link: 32292574
Variant Present in the following documents:
  • oncotarget-11-1244-s005.xlsx, sheet 1
View BVdb publication page



Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10

Variant appearance in text: ATM: 6070G>A; G2024R
PubMed Link: 27161972
Variant Present in the following documents:
  • supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1
View BVdb publication page



Temporal dissection of tumorigenesis in primary cancers.

Cancer Discovery
Durinck, Steffen S; Ho, Christine C; Wang, Nicholas J NJ; Liao, Wilson W; Jakkula, Lakshmi R LR; Collisson, Eric A EA; Pons, Jennifer J; Chan, Sai-Wing SW; Lam, Ernest T ET; Chu, Catherine C; Park, Kyunghee K; Hong, Sung-woo SW; Hur, Joe S JS; Huh, Nam N; Neuhaus, Isaac M IM; Yu, Siegrid S SS; Grekin, Roy C RC; Mauro, Theodora M TM; Cleaver, James E JE; Kwok, Pui-Yan PY; LeBoit, Philip E PE; Getz, Gad G; Cibulskis, Kristian K; Aster, Jon C JC; Huang, Haiyan H; Purdom, Elizabeth E; Li, Jian J; Bolund, Lars L; Arron, Sarah T ST; Gray, Joe W JW; Spellman, Paul T PT; Cho, Raymond J RJ
Publication Date: 2011-07

Variant appearance in text: ATM: G2024R
PubMed Link: 21984974
Variant Present in the following documents:
  • Main text
View BVdb publication page