GRIN2A c.2224G>A ;(p.D742N)

Variant ID: 16-9892266-C-T

NM_001134407.1(GRIN2A):c.2224G>A;(p.D742N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: GRIN2A: 2224G>A; D742N
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

Scientific Reports
de Unamuno Bustos, Blanca B; Murria Estal, Rosa R; Pérez Simó, Gema G; de Juan Jimenez, Inmaculada I; Escutia Muñoz, Begoña B; Rodríguez Serna, Mercedes M; Alegre de Miquel, Victor V; Llavador Ros, Margarita M; Ballester Sánchez, Rosa R; Nagore Enguídanos, Eduardo E; Palanca Suela, Sarai S; Botella Estrada, Rafael R
Publication Date: 2017-03-29

Variant appearance in text: GRIN2A: 2224G>A; Asp742Asn
PubMed Link: 28356599
Variant Present in the following documents:
  • 41598_2017_606_MOESM2_ESM.xls, 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: 2224G>A; D742N
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: GRIN2A: 2224G>A; D742N
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: GRIN2A: 2224G>A; D742N
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Desmoplastic melanoma with sarcomatoid dedifferentiation.

The American Journal Of Surgical Pathology
Kiuru, Maija M; McDermott, Gregory G; Berger, Michael M; Halpern, Allan C AC; Busam, Klaus J KJ
Publication Date: 2014-06

Variant appearance in text: GRIN2A: D742N
PubMed Link: 24618614
Variant Present in the following documents:
  • Main text
View BVdb publication page