KMT2D c.1941dup ;(p.P648Tfs*2)

Variant ID: 12-49445524-G-GT

NM_003482.3(KMT2D):c.1941dup;(p.P648Tfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


KDM5 inhibition offers a novel therapeutic strategy for the treatment of KMT2D mutant lymphomas.

Blood
Heward, James J; Konali, Lola L; D'Avola, Annalisa A; Close, Karina K; Yeomans, Alison A; Philpott, Martin M; Dunford, James J; Rahim, Tahrima T; Al Seraihi, Ahad F AF; Wang, Jun J; Korfi, Koorosh K; Araf, Shamzah S; Iqbal, Sameena S; Bewicke-Copley, Findlay F; Kumar, Emil E; Barisic, Darko D; Calaminici, Maria M; Clear, Andrew A; Gribben, John J; Johnson, Peter P; Neve, Richard R; Cutillas, Pedro P; Okosun, Jessica J; Oppermann, Udo U; Melnick, Ari A; Packham, Graham G; Fitzgibbon, Jude J
Publication Date: 2021-08-05

Variant appearance in text: KMT2D: P648Tfs*2
PubMed Link: 33786580
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: KMT2D: P648Tfs*2
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page