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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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