KMT2D c.1565C>T ;(p.P522L)

Variant ID: 12-49445901-G-A

NM_003482.3(KMT2D):c.1565C>T;(p.P522L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: P522L
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Genetic Basis of Extramedullary Plasmablastic Transformation of Multiple Myeloma.

The American Journal Of Surgical Pathology
Liu, Ying Y; Jelloul, Fatima F; Zhang, Yanming Y; Bhavsar, Tapan T; Ho, Caleb C; Rao, Mamta M; Lewis, Natasha E NE; Cimera, Robert R; Baik, Jeeyeon J; Sigler, Allison A; Sen, Filiz F; Yabe, Mariko M; Roshal, Mikhail M; Landgren, Ola O; Dogan, Ahmet A; Xiao, Wenbin W
Publication Date: 2020-06

Variant appearance in text: KMT2D: P522L
PubMed Link: 32118627
Variant Present in the following documents:
  • Main text
View BVdb publication page