ATM c.2578G>C ;(p.D860H)

Variant ID: 11-108138009-G-C

NM_000051.3(ATM):c.2578G>C;(p.D860H)

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: 2578G>C; Asp860His
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



An Algorithm Combining Patient Performance Status, Second Hit Analysis, PROVEAN and Dann Prediction Tools Could Foretell Sensitization to PARP Inhibitors in Digestive, Skin, Ovarian and Breast Cancers.

Cancers
Chevrier, Sandy S; Richard, Corentin C; Collot, Thomas T; Mananet, Hugo H; Arnould, Laurent L; Boidot, Romain R
Publication Date: 2021-06-22

Variant appearance in text: ATM: 2578G>C; Asp860His
PubMed Link: 34206535
Variant Present in the following documents:
  • Main text
  • cancers-13-03113.pdf
View BVdb publication page