KMT2D c.5111G>A ;(p.R1704Q)

Variant ID: 12-49438060-C-T

NM_003482.3(KMT2D):c.5111G>A;(p.R1704Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

The Journal Of Pathology
Bleijenberg, Arne Gc AG; IJspeert, Joep Eg JE; Mulder, Jos Bg JB; Drillenburg, Paul P; Stel, Herbert V HV; Lodder, Elisabeth M EM; Carvalho, Beatriz B; Jansen, Jade J; Meijer, Gerrit G; van Eeden, Susanne S; Dekker, Evelien E; van Noesel, Carel Jm CJ
Publication Date: 2022-06

Variant appearance in text: KMT2D: 5111G>A; R1704Q
PubMed Link: 35143042
Variant Present in the following documents:
  • PATH-257-239-s001.xlsx, sheet 2
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KMT2D: R1704Q
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page