GRIN2A c.1116G>A ;(p.W372*)

Variant ID: 16-9984849-C-T

NM_001134407.1(GRIN2A):c.1116G>A;(p.W372*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: GRIN2A: 1116G>A; W372*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Genomic assessment distinguishes intrapulmonary metastases from synchronous primary lung cancers.

Journal Of Thoracic Disease
Corsini, Erin M EM; Wang, Jinliang J; Wu, Chia-Chin CC; Fujimoto, Junya J; Negrao, Marcelo V MV; Chen, Runzhe R; Quek, Kelly K; Mitchell, Kyle G KG; Chow, Chi-Wan B CB; Little, Latasha L; Gumbs, Curtis C; Song, Xingzhi X; Behrens, Carmen C; Correa, Arlene M AM; Antonoff, Mara B MB; Swisher, Stephen G SG; Heymach, John V JV; Zhang, Jianhua J; Wistuba, Ignacio I II; Futreal, P Andrew PA; Sepesi, Boris B; Zhang, Jianjun J
Publication Date: 2020-05

Variant appearance in text: GRIN2A: W372X
PubMed Link: 32642098
Variant Present in the following documents:
  • Main text
  • jtd-12-05-1952.pdf
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: GRIN2A: 1116G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: GRIN2A: 1116G>A; W372*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.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: 1116G>A; W372*
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.

The Journal Of Investigative Dermatology
Prickett, Todd D TD; Zerlanko, Brad J BJ; Hill, Victoria K VK; Gartner, Jared J JJ; Qutob, Nouar N; Jiang, Jiji J; Simaan, May M; Wunderlich, John J; Gutkind, J Silvio JS; Rosenberg, Steven A SA; Samuels, Yardena Y
Publication Date: 2014-09

Variant appearance in text: GRIN2A: W372X
PubMed Link: 24739903
Variant Present in the following documents:
  • Main text
  • nihms585518.pdf
  • NIHMS585518-supplement-supplement_1.pdf
View BVdb publication page