GRIN2A c.3622C>T ;(p.R1208W)

Variant ID: 16-9857779-G-A

NM_001134407.1(GRIN2A):c.3622C>T;(p.R1208W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Wilms tumor mutational subclasses converge to drive CCND2 overexpression.

Medrxiv : The Preprint Server For Health Sciences
Xu, Lin L; Desai, Kavita K; Kim, Jiwoong J; Zhou, Qinbo Q; Guo, Lei L; Xiao, Xue X; Zhang, Yanfeng Y; Zhou, Li L; Yuksel, Aysen A; Catchpoole, Daniel R DR; Amatruda, James F JF; Chen, Kenneth S KS
Publication Date: 2023-02-02

Variant appearance in text: GRIN2A: 3622C>T; Arg1208Trp
PubMed Link: 36778325
Variant Present in the following documents:
  • media-4.xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: GRIN2A: 3622C>T; R1208W
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Publication Date: 2016-12

Variant appearance in text: GRIN2A: R1208W
PubMed Link: 27640074
Variant Present in the following documents:
  • mmc2.xlsx, sheet 5
View BVdb publication page