ATM c.34_36delinsATG ;(p.C12M)

Variant ID: 11-108098385-TGC-ATG

NM_000051.3(ATM):c.34_36delinsATG;(p.C12M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mechanism of NMDA receptor channel block by MK-801 and memantine.

Nature
Song, Xianqiang X; Jensen, Morten Ø MØ; Jogini, Vishwanath V; Stein, Richard A RA; Lee, Chia-Hsueh CH; Mchaourab, Hassane S HS; Shaw, David E DE; Gouaux, Eric E
Publication Date: 2018-04

Variant appearance in text: ATD: C12M
PubMed Link: 29670280
Variant Present in the following documents:
  • Main text
View BVdb publication page



Probing Intersubunit Interfaces in AMPA-subtype Ionotropic Glutamate Receptors.

Scientific Reports
Yelshanskaya, Maria V MV; Saotome, Kei K; Singh, Appu K AK; Sobolevsky, Alexander I AI
Publication Date: 2016-01-07

Variant appearance in text: ATD: C12M
PubMed Link: 26739260
Variant Present in the following documents:
  • srep19082.pdf
View BVdb publication page



NMDA receptor structures reveal subunit arrangement and pore architecture.

Nature
Lee, Chia-Hsueh CH; Lü, Wei W; Michel, Jennifer Carlisle JC; Goehring, April A; Du, Juan J; Song, Xianqiang X; Gouaux, Eric E
Publication Date: 2014-07-10

Variant appearance in text: ATD: C12M
PubMed Link: 25008524
Variant Present in the following documents:
  • Main text
  • nihms601974.pdf
View BVdb publication page



Sporadic Alzheimer disease fibroblasts display an oxidative stress phenotype.

Free Radical Biology & Medicine
Ramamoorthy, Mahesh M; Sykora, Peter P; Scheibye-Knudsen, Morten M; Dunn, Christopher C; Kasmer, Cindy C; Zhang, Yongqing Y; Becker, Kevin G KG; Croteau, Deborah L DL; Bohr, Vilhelm A VA
Publication Date: 2012-09-15

Variant appearance in text: ATM: C12M
PubMed Link: 22885031
Variant Present in the following documents:
  • Main text
View BVdb publication page