DOT1L c.1327C>G ;(p.Q443E)

Variant ID: 19-2210830-C-G

NM_032482.2(DOT1L):c.1327C>G;(p.Q443E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case Report: Significant Response to Immune Checkpoint Inhibitor Camrelizumab in a Heavily Pretreated Advanced ER+/HER2- Breast Cancer Patient With High Tumor Mutational Burden.

Frontiers In Oncology
Wang, Rong R; Yang, Yuchen Y; Ye, Wei-Wu WW; Xiang, Jianxing J; Chen, Songan S; Zou, Wei-Bin WB; Wang, Xiao-Jia XJ; Chen, Tianhui T; Cao, Wen-Ming WM
Publication Date: 2020

Variant appearance in text: DOT1L: 1327C>G; Gln443Glu; rs751935862
PubMed Link: 33634015
Variant Present in the following documents:
  • Table_1.xlsx, sheet 5
  • Table_1.xlsx, sheet 8
  • Table_1.xlsx, sheet 6
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: DOT1L: 1327C>G; Gln443Glu; rs751935862
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
  • 13045_2018_679_MOESM3_ESM.pdf
View BVdb publication page