ATM c.52G>A ;(p.D18N)

Variant ID: 11-108098403-G-A

NM_000051.3(ATM):c.52G>A;(p.D18N)

This variant was identified in 5 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: D18N
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: 52G>A; D18N
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: ATM: D18N
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Topoisomerase II Inhibitors Induce DNA Damage-Dependent Interferon Responses Circumventing Ebola Virus Immune Evasion.

Mbio
Luthra, Priya P; Aguirre, Sebastian S; Yen, Benjamin C BC; Pietzsch, Colette A CA; Sanchez-Aparicio, Maria T MT; Tigabu, Bersabeh B; Morlock, Lorraine K LK; García-Sastre, Adolfo A; Leung, Daisy W DW; Williams, Noelle S NS; Fernandez-Sesma, Ana A; Bukreyev, Alexander A; Basler, Christopher F CF
Publication Date: 2017-04-04

Variant appearance in text: ATM: D18N
PubMed Link: 28377530
Variant Present in the following documents:
  • Main text
  • mBio.00368-17.pdf
View BVdb publication page



Human GRIN2B variants in neurodevelopmental disorders.

Journal Of Pharmacological Sciences
Hu, Chun C; Chen, Wenjuan W; Myers, Scott J SJ; Yuan, Hongjie H; Traynelis, Stephen F SF
Publication Date: 2016-10

Variant appearance in text: ATD: 52G>A
PubMed Link: 27818011
Variant Present in the following documents:
  • nihms830120.pdf
View BVdb publication page