ATM c.172G>A ;(p.D58N)

Variant ID: 11-108098602-G-A

NM_000051.3(ATM):c.172G>A;(p.D58N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The caspase-2 substrate p54nrb exhibits a multifaceted role in tumor cell death susceptibility via gene regulatory functions.

Cell Death & Disease
Eichler, Madeleine M; Distler, Ute U; Nasrullah, Usman U; Krishnan, Aswini A; Kaulich, Manuel M; Husnjak, Koraljka K; Eberhardt, Wolfgang W; Rajalingam, Krishnaraj K; Tenzer, Stefan S; Pfeilschifter, Josef J; Imre, Gergely G
Publication Date: 2022-04-20

Variant appearance in text: ATM: D58N
PubMed Link: 35444189
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_4829.pdf
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: D58N
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: ATM: D58N
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Normal function of the yeast TOR pathway requires the type 2C protein phosphatase Ptc1.

Molecular And Cellular Biology
González, Asier A; Ruiz, Amparo A; Casamayor, Antonio A; Ariño, Joaquín J
Publication Date: 2009-05

Variant appearance in text: ATM: D58N
PubMed Link: 19273591
Variant Present in the following documents:
  • Main text
View BVdb publication page