GRIN2A c.2671C>T ;(p.Q891*)

Variant ID: 16-9858730-G-A

NM_001134407.1(GRIN2A):c.2671C>T;(p.Q891*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: GRIN2A: 2671C>T
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, 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: Q891X
PubMed Link: 24739903
Variant Present in the following documents:
  • Main text
  • nihms585518.pdf
View BVdb publication page