ATM c.2171G>A ;(p.G724D)

Variant ID: 11-108126988-G-A

NM_000051.3(ATM):c.2171G>A;(p.G724D)

This variant was identified in 2 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: 2171G>A; G724D
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genetic landscape of ultra-stable chronic lymphocytic leukemia patients.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Raponi, S S; Del Giudice, I I; Marinelli, M M; Wang, J J; Cafforio, L L; Ilari, C C; Piciocchi, A A; Messina, M M; Bonina, S S; Tavolaro, S S; Bordyuh, M M; Mariglia, P P; Peragine, N N; Mauro, F R FR; Chiaretti, S S; Molica, S S; Gentile, M M; Visentin, A A; Trentin, L L; Rigolin, G M GM; Cuneo, A A; Diop, F F; Rossi, D D; Gaidano, G G; Guarini, A A; Rabadan, R R; FoĆ , R R
Publication Date: 2018-04-01

Variant appearance in text: ATM: 2171G>A
PubMed Link: 29365086
Variant Present in the following documents:
  • Main text
View BVdb publication page