KMT2D c.847G>T ;(p.G283W)

Variant ID: 12-49447097-C-A

NM_003482.3(KMT2D):c.847G>T;(p.G283W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prognostic Significance of Oxidation Pathway Mutations in Recurrent Laryngeal Squamous Cell Carcinoma.

Cancers
Heft Neal, Molly E ME; Bhangale, Apurva D AD; Birkeland, Andrew C AC; McHugh, Jonathan B JB; Shuman, Andrew G AG; Rosko, Andrew J AJ; Swiecicki, Paul L PL; Spector, Matthew E ME; Brenner, J Chad JC
Publication Date: 2020-10-22

Variant appearance in text: KMT2D: Gly283Trp
PubMed Link: 33105726
Variant Present in the following documents:
  • cancers-12-03081.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: 847G>T; G283W
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Somatic activating mutations in MAP2K1 cause melorheostosis.

Nature Communications
Kang, Heeseog H; Jha, Smita S; Deng, Zuoming Z; Fratzl-Zelman, Nadja N; Cabral, Wayne A WA; Ivovic, Aleksandra A; Meylan, Françoise F; Hanson, Eric P EP; Lange, Eileen E; Katz, James J; Roschger, Paul P; Klaushofer, Klaus K; Cowen, Edward W EW; Siegel, Richard M RM; Marini, Joan C JC; Bhattacharyya, Timothy T
Publication Date: 2018-04-11

Variant appearance in text: KMT2D: G283W
PubMed Link: 29643386
Variant Present in the following documents:
  • 41467_2018_3720_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page