GRIN2A c.2263A>G ;(p.I755V)

Variant ID: 16-9892227-T-C

NM_001134407.1(GRIN2A):c.2263A>G;(p.I755V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: GRIN2A: I755V; rs763490638
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Cold and heterogeneous T cell repertoire is associated with copy number aberrations and loss of immune genes in small-cell lung cancer.

Nature Communications
Chen, Ming M; Chen, Runzhe R; Jin, Ying Y; Li, Jun J; Hu, Xin X; Zhang, Jiexin J; Fujimoto, Junya J; Hubert, Shawna M SM; Gay, Carl M CM; Zhu, Bo B; Tian, Yanhua Y; McGranahan, Nicholas N; Lee, Won-Chul WC; George, Julie J; Hu, Xiao X; Chen, Yamei Y; Wu, Meijuan M; Behrens, Carmen C; Chow, Chi-Wan CW; Pham, Hoa H N HHN; Fukuoka, Junya J; Wu, Jia J; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Song, Xingzhi X; Wu, Chang-Jiun CJ; Diao, Lixia L; Wang, Qi Q; Cardnell, Robert R; Zhang, Jianhua J; Wang, Jing J; Le, Xiuning X; Gibbons, Don L DL; Heymach, John V JV; Jack Lee, J J; William, William N WN; Cheng, Chao C; Glisson, Bonnie B; Wistuba, Ignacio I; Andrew Futreal, P P; Thomas, Roman K RK; Reuben, Alexandre A; Byers, Lauren A LA; Zhang, Jianjun J
Publication Date: 2021-11-17

Variant appearance in text: GRIN2A: I755V
PubMed Link: 34789716
Variant Present in the following documents:
  • 41467_2021_26821_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GRIN2A: I755V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Structural basis of subunit selectivity for competitive NMDA receptor antagonists with preference for GluN2A over GluN2B subunits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lind, Genevieve E GE; Mou, Tung-Chung TC; Tamborini, Lucia L; Pomper, Martin G MG; De Micheli, Carlo C; Conti, Paola P; Pinto, Andrea A; Hansen, Kasper B KB
Publication Date: 2017-08-15

Variant appearance in text: GluN2A: I755V
PubMed Link: 28760974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ligand-specific deactivation time course of GluN1/GluN2D NMDA receptors.

Nature Communications
Vance, Katie M KM; Simorowski, Noriko N; Traynelis, Stephen F SF; Furukawa, Hiro H
Publication Date: 2011

Variant appearance in text: GluN2A: I755V
PubMed Link: 21522138
Variant Present in the following documents:
  • Main text
View BVdb publication page