GRIN2A c.2193T>A ;(p.D731E)

Variant ID: 16-9892297-A-T

NM_001134407.1(GRIN2A):c.2193T>A;(p.D731E)

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: GRIN2A: 2193T>A; Asp731Glu
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

Plos One
Gao, Kai K; Tankovic, Anel A; Zhang, Yujia Y; Kusumoto, Hirofumi H; Zhang, Jin J; Chen, Wenjuan W; XiangWei, Wenshu W; Shaulsky, Gil H GH; Hu, Chun C; Traynelis, Stephen F SF; Yuan, Hongjie H; Jiang, Yuwu Y
Publication Date: 2017

Variant appearance in text: GluN2A: D731E
PubMed Link: 28182669
Variant Present in the following documents:
  • Main text
  • pone.0170818.pdf
View BVdb publication page



Glutamate receptor ion channels: structure, regulation, and function.

Pharmacological Reviews
Traynelis, Stephen F SF; Wollmuth, Lonnie P LP; McBain, Chris J CJ; Menniti, Frank S FS; Vance, Katie M KM; Ogden, Kevin K KK; Hansen, Kasper B KB; Yuan, Hongjie H; Myers, Scott J SJ; Dingledine, Ray R
Publication Date: 2010-09

Variant appearance in text: GluN2A: D731E
PubMed Link: 20716669
Variant Present in the following documents:
  • Main text
View BVdb publication page