DOT1L c.888C>T ;(p.L296=)

Variant ID: 19-2207604-C-T

NM_032482.2(DOT1L):c.888C>T;(p.L296=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: DOT1L: 888C>T; L296L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



The protective role of DOT1L in UV-induced melanomagenesis.

Nature Communications
Zhu, Bo B; Chen, Shuyang S; Wang, Hongshen H; Yin, Chengqian C; Han, Changpeng C; Peng, Cong C; Liu, Zhaoqian Z; Wan, Lixin L; Zhang, Xiaoyang X; Zhang, Jie J; Lian, Christine G CG; Ma, Peilin P; Xu, Zhi-Xiang ZX; Prince, Sharon S; Wang, Tao T; Gao, Xiumei X; Shi, Yujiang Y; Liu, Dali D; Liu, Min M; Wei, Wenyi W; Wei, Zhi Z; Pan, Jingxuan J; Wang, Yongjun Y; Xuan, Zhenyu Z; Hess, Jay J; Hayward, Nicholas K NK; Goding, Colin R CR; Chen, Xiang X; Zhou, Jun J; Cui, Rutao R
Publication Date: 2018-01-17

Variant appearance in text: DOT1L: L296L
PubMed Link: 29343685
Variant Present in the following documents:
  • 41467_2017_2687_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
PatiƱo, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: DOT1L: L296L
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
View BVdb publication page