ATM c.2413_2414delinsGA ;(p.R805E)

Variant ID: 11-108129749-CG-GA

NM_000051.3(ATM):c.2413_2414delinsGA;(p.R805E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Functional and structural insights into the MRX/MRN complex, a key player in recognition and repair of DNA double-strand breaks.

Computational And Structural Biotechnology Journal
Tisi, Renata R; Vertemara, Jacopo J; Zampella, Giuseppe G; Longhese, Maria Pia MP
Publication Date: 2020

Variant appearance in text: ATM: R805E
PubMed Link: 32489527
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Adjacent mutations in the archaeal Rad50 ABC ATPase D-loop disrupt allosteric regulation of ATP hydrolysis through different mechanisms.

Nucleic Acids Research
Boswell, Zachary K ZK; Canny, Marella D MD; Buschmann, Tanner A TA; Sang, Julie J; Latham, Michael P MP
Publication Date: 2020-03-18

Variant appearance in text: ATM: R805E
PubMed Link: 31889185
Variant Present in the following documents:
  • Main text
  • gkz1228.pdf
View BVdb publication page



The ATP-bound conformation of the Mre11-Rad50 complex is essential for Tel1/ATM activation.

Nucleic Acids Research
Cassani, Corinne C; Vertemara, Jacopo J; Bassani, Matteo M; Marsella, Antonio A; Tisi, Renata R; Zampella, Giuseppe G; Longhese, Maria Pia MP
Publication Date: 2019-04-23

Variant appearance in text: ATM: R805E
PubMed Link: 30698745
Variant Present in the following documents:
  • Main text
  • gkz038.pdf
View BVdb publication page



A dynamic allosteric pathway underlies Rad50 ABC ATPase function in DNA repair.

Scientific Reports
Boswell, Zachary K ZK; Rahman, Samiur S; Canny, Marella D MD; Latham, Michael P MP
Publication Date: 2018-01-26

Variant appearance in text: ATM: R805E
PubMed Link: 29374232
Variant Present in the following documents:
  • 41598_2018_Article_19908.pdf
View BVdb publication page



Envisioning the dynamics and flexibility of Mre11-Rad50-Nbs1 complex to decipher its roles in DNA replication and repair.

Progress In Biophysics And Molecular Biology
Lafrance-Vanasse, Julien J; Williams, Gareth J GJ; Tainer, John A JA
Publication Date: 2015-03

Variant appearance in text: ATM: R805E
PubMed Link: 25576492
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATP-driven Rad50 conformations regulate DNA tethering, end resection, and ATM checkpoint signaling.

The Embo Journal
Deshpande, Rajashree A RA; Williams, Gareth J GJ; Limbo, Oliver O; Williams, R Scott RS; Kuhnlein, Jeff J; Lee, Ji-Hoon JH; Classen, Scott S; Guenther, Grant G; Russell, Paul P; Tainer, John A JA; Paull, Tanya T TT
Publication Date: 2014-03-03

Variant appearance in text: ATM: R805E
PubMed Link: 24493214
Variant Present in the following documents:
  • Main text
View BVdb publication page