DOT1L c.2347C>T ;(p.R783W)

Variant ID: 19-2216703-C-T

NM_032482.2(DOT1L):c.2347C>T;(p.R783W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.

Frontiers In Molecular Biosciences
Zheng, Biqiang B; Song, Zhijian Z; Chen, Yong Y; Yan, Wangjun W
Publication Date: 2021

Variant appearance in text: DOT1L: R783W
PubMed Link: 34336928
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: DOT1L: R783W
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 15
View BVdb publication page