KMT2D c.3511G>T ;(p.E1171*)

Variant ID: 12-49443860-C-A

NM_003482.3(KMT2D):c.3511G>T;(p.E1171*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One
Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D
Publication Date: 2022

Variant appearance in text: KMT2D: 3511G>T; Glu1171*
PubMed Link: 36155654
Variant Present in the following documents:
  • pone.0275121.s002.xlsx, sheet 3
  • pone.0275121.s001.xlsx, sheet 3
View BVdb publication page



Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

Cancer Informatics
D'Afonseca, Vívian V; Arencibia, Ariel D AD; Echeverría-Vega, Alex A; Cerpa, Leslie L; Cayún, Juan P JP; Varela, Nelson M NM; Salazar, Marcela M; Quiñones, Luis A LA
Publication Date: 2020

Variant appearance in text: KMT2D: E1171*
PubMed Link: 32546937
Variant Present in the following documents:
  • Main text
  • 10.1177_1176935120922154.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: KMT2D: 3511G>T
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page