KMT2D c.9241G>A ;(p.E3081K)

Variant ID: 12-49431898-C-T

NM_003482.3(KMT2D):c.9241G>A;(p.E3081K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Adib, Elio E; Klonowska, Katarzyna K; Giannikou, Krinio K; Do, Khanh T KT; Pruitt-Thompson, Solida S; Bhushan, Ketki K; Milstein, Matthew I MI; Hedglin, Jennifer J; Kargus, Katherine E KE; Sholl, Lynette M LM; Tsuji, Junko J; Hyman, David M DM; Sisk, Anne A; Shapiro, Geoffrey I GI; Vargas, Hebert A HA; Harding, James J JJ; Voss, Martin H MH; Iyer, Gopa G; Kwiatkowski, David J DJ
Publication Date: 2021-07-15

Variant appearance in text: KMT2D: Glu3081Lys
PubMed Link: 33727259
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: E3081K
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page