ATM c.7555C>G ;(p.L2519V)

Variant ID: 11-108202210-C-G

NM_000051.3(ATM):c.7555C>G;(p.L2519V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: ATM: 7555C>G; Leu2519Val
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.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: 7555C>G; L2519V
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A novel class of somatic mutations in blood detected preferentially in CD8+ cells.

Clinical Immunology (Orlando, Fla.)
Valori, Miko M; Jansson, Lilja L; Kiviharju, Anna A; Ellonen, Pekka P; Rajala, Hanna H; Awad, Shady Adnan SA; Mustjoki, Satu S; Tienari, Pentti J PJ
Publication Date: 2017-02

Variant appearance in text: ATM: L2519V
PubMed Link: 27932211
Variant Present in the following documents:
  • Main text
View BVdb publication page