ATM c.644A>G ;(p.K215R)

Variant ID: 11-108114827-A-G

NM_000051.3(ATM):c.644A>G;(p.K215R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ATM: K215R; rs755074633
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.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: 644A>G; K215R; rs755074633
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Acetylation of Aurora B by TIP60 ensures accurate chromosomal segregation.

Nature Chemical Biology
Mo, Fei F; Zhuang, Xiaoxuan X; Liu, Xing X; Yao, Phil Y PY; Qin, Bo B; Su, Zeqi Z; Zang, Jianye J; Wang, Zhiyong Z; Zhang, Jiancun J; Dou, Zhen Z; Tian, Changlin C; Teng, Maikun M; Niu, Liwen L; Hill, Donald L DL; Fang, Guowei G; Ding, Xia X; Fu, Chuanhai C; Yao, Xuebiao X
Publication Date: 2016-04

Variant appearance in text: ATM: K215R
PubMed Link: 26829474
Variant Present in the following documents:
  • Main text
  • nihms744589.pdf
View BVdb publication page