ATM c.1099T>C ;(p.S367P)

Variant ID: 11-108119693-T-C

NM_000051.3(ATM):c.1099T>C;(p.S367P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 1099T>C; Ser367Pro
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: ATM: 1099T>C; Ser367Pro
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



ATM-dependent pathways of chromatin remodelling and oxidative DNA damage responses.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences
Berger, N Daniel ND; Stanley, Fintan K T FKT; Moore, Shaun S; Goodarzi, Aaron A AA
Publication Date: 2017-10-05

Variant appearance in text: ATM: S367p
PubMed Link: 28847820
Variant Present in the following documents:
  • Main text
View BVdb publication page