DOT1L c.1514C>T ;(p.P505L)

Variant ID: 19-2211798-C-T

NM_032482.2(DOT1L):c.1514C>T;(p.P505L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature
Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK
Publication Date: 2019-01

Variant appearance in text: DOT1L: 1514C>T; P505L
PubMed Link: 30675060
Variant Present in the following documents:
  • NIHMS1516901-supplement-Sup_Table_5.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: P505L
PubMed Link: 29343685
Variant Present in the following documents:
  • Main text
  • 41467_2017_2687_MOESM6_ESM.xlsx, sheet 1
  • 41467_2017_Article_2687.pdf
  • 41467_2017_2687_MOESM1_ESM.pdf
View BVdb publication page