ATM c.478T>G ;(p.S160A)

Variant ID: 11-108106543-T-G

NM_000051.3(ATM):c.478T>G;(p.S160A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


DNA binding by the Rad9A subunit of the Rad9-Rad1-Hus1 complex.

Plos One
Hwang, Bor-Jang BJ; Gonzales, Rex R; Corzine, Sage S; Stenson, Emilee E; Pidugu, Lakshmi L; Lu, A-Lien AL
Publication Date: 2022

Variant appearance in text: ATM: S160A
PubMed Link: 35939452
Variant Present in the following documents:
  • pone.0272645.pdf
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: 478T>G; Ser160Ala
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Phosphorylation of Msx1 promotes cell proliferation through the Fgf9/18-MAPK signaling pathway during embryonic limb development.

Nucleic Acids Research
Yang, Yenan Y; Zhu, Xiaoli X; Jia, Xiang X; Hou, Wanwan W; Zhou, Guoqiang G; Ma, Zhangjing Z; Yu, Bin B; Pi, Yan Y; Zhang, Xumin X; Wang, Jingqiang J; Wang, Gang G
Publication Date: 2020-11-18

Variant appearance in text: ATM: S160A
PubMed Link: 33080014
Variant Present in the following documents:
  • gkaa905_supplemental_file.pdf
View BVdb publication page



Binding of a third metal ion by the human phosphatases PP2Cα and Wip1 is required for phosphatase activity.

Biochemistry
Tanoue, Kan K; Miller Jenkins, Lisa M LM; Durell, Stewart R SR; Debnath, Subrata S; Sakai, Hiroyasu H; Tagad, Harichandra D HD; Ishida, Kazushige K; Appella, Ettore E; Mazur, Sharlyn J SJ
Publication Date: 2013-08-27

Variant appearance in text: ATM: S160A
PubMed Link: 23906386
Variant Present in the following documents:
  • Main text
View BVdb publication page