KMT2D c.3475G>C ;(p.E1159Q)

Variant ID: 12-49443896-C-G

NM_003482.3(KMT2D):c.3475G>C;(p.E1159Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: E1159Q
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.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: E1159Q
PubMed Link: 32546937
Variant Present in the following documents:
  • Main text
  • 10.1177_1176935120922154.pdf
View BVdb publication page