ATM c.3311C>G ;(p.S1104C)

Variant ID: 11-108150244-C-G

NM_000051.3(ATM):c.3311C>G;(p.S1104C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PRMT1-dependent regulation of RNA metabolism and DNA damage response sustains pancreatic ductal adenocarcinoma.

Nature Communications
Giuliani, Virginia V; Miller, Meredith A MA; Liu, Chiu-Yi CY; Hartono, Stella R SR; Class, Caleb A CA; Bristow, Christopher A CA; Suzuki, Erika E; Sanz, Lionel A LA; Gao, Guang G; Gay, Jason P JP; Feng, Ningping N; Rose, Johnathon L JL; Tomihara, Hideo H; Daniele, Joseph R JR; Peoples, Michael D MD; Bardenhagen, Jennifer P JP; Geck Do, Mary K MK; Chang, Qing E QE; Vangamudi, Bhavatarini B; Vellano, Christopher C; Ying, Haoqiang H; Deem, Angela K AK; Do, Kim-Anh KA; Genovese, Giannicola G; Marszalek, Joseph R JR; Kovacs, Jeffrey J JJ; Kim, Michael M; Fleming, Jason B JB; Guccione, Ernesto E; Viale, Andrea A; Maitra, Anirban A; Emilia Di Francesco, M M; Yap, Timothy A TA; Jones, Philip P; Draetta, Giulio G; Carugo, Alessandro A; Chedin, Frederic F; Heffernan, Timothy P TP
Publication Date: 2021-07-30

Variant appearance in text: ATM: 3311C>G; S1104C
PubMed Link: 34330913
Variant Present in the following documents:
  • 41467_2021_24798_MOESM3_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: 3311C>G; S1104C
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page