DOT1L c.754C>T ;(p.Q252*)

Variant ID: 19-2202745-C-T

NM_032482.2(DOT1L):c.754C>T;(p.Q252*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications
Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; TirrĂ², Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G
Publication Date: 2023-03-11

Variant appearance in text: DOT1L: Q252*
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: DOT1L: 754C>T; Q252*
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_1.xlsx, sheet 1
View BVdb publication page