ATM c.8789G>T ;(p.C2930F)

Variant ID: 11-108225540-G-T

NM_000051.3(ATM):c.8789G>T;(p.C2930F)

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: 8789G>T; C2930F
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma.

Plos One
Simpson, Haley M HM; Khan, Rashid Z RZ; Song, Chang C; Sharma, Deva D; Sadashivaiah, Kavitha K; Furusawa, Aki A; Liu, Xinyue X; Nagaraj, Sushma S; Sengamalay, Naomi N; Sadzewicz, Lisa L; Tallon, Luke J LJ; Chen, Qing C QC; Livak, Ferenc F; Rapoport, Aaron P AP; Kimball, Amy A; Banerjee, Arnob A
Publication Date: 2015

Variant appearance in text: ATM: C2930F
PubMed Link: 26536348
Variant Present in the following documents:
  • Main text
  • pone.0141906.pdf
View BVdb publication page