BRCA2 c.1236C>T ;(p.P412=)

Variant ID: 13-32906851-C-T

NM_000059.3(BRCA2):c.1236C>T;(p.P412=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.

Cancers
Maillard, Maud M; Chevreau, Christine C; Le Louedec, Félicien F; Cassou, Manon M; Delmas, Caroline C; Gourdain, Laure L; Blay, Jean-Yves JY; Cupissol, Didier D; Bompas, Emmanuelle E; Italiano, Antoine A; Isambert, Nicolas N; Delcambre-Lair, Corinne C; Penel, Nicolas N; Bertucci, François F; Guillemet, Cécile C; Plenecassagnes, Julien J; Foulon, Stéphanie S; Chatelut, Étienne É; Le Cesne, Axel A; Thomas, Fabienne F
Publication Date: 2020-12-04

Variant appearance in text: BRCA2: 1236C>T
PubMed Link: 33291741
Variant Present in the following documents:
  • Main text
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: BRCA2: 1236C>T; P412P
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page