KMT2C c.11591_11592delinsAA ;(p.R3864Q)

Variant ID: 7-151856026-GC-TT

NM_170606.2(KMT2C):c.11591_11592delinsAA;(p.R3864Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Somatic cancer mutations in the MLL1 histone methyltransferase modulate its enzymatic activity and dependence on the WDR5/RBBP5/ASH2L complex.

Molecular Oncology
Weirich, Sara S; Kudithipudi, Srikanth S; Jeltsch, Albert A
Publication Date: 2017-04

Variant appearance in text: MLL3: R3864Q
PubMed Link: 28182322
Variant Present in the following documents:
  • Main text
  • MOL2-11-373.pdf
View BVdb publication page



A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes.

Journal Of Molecular Biology
Shinsky, Stephen A SA; Hu, Michael M; Vought, Valarie E VE; Ng, Sarah B SB; Bamshad, Michael J MJ; Shendure, Jay J; Cosgrove, Michael S MS
Publication Date: 2014-06-12

Variant appearance in text: KMT2C: R3864Q
PubMed Link: 24680668
Variant Present in the following documents:
  • Main text
View BVdb publication page