POLE c.749G>C ;(p.G250A)

Variant ID: 12-133254001-C-G

NM_006231.2(POLE):c.749G>C;(p.G250A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: POLE: G250A
PubMed Link: 32461694
Variant Present in the following documents:
  • Main text
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
  • nihms-1582596.pdf
View BVdb publication page



Biological and therapeutic implications of multisector sequencing in newly diagnosed glioblastoma.

Neuro-Oncology
Mahlokozera, Tatenda T; Vellimana, Ananth K AK; Li, Tiandao T; Mao, Diane D DD; Zohny, Zohny S ZS; Kim, David H DH; Tran, David D DD; Marcus, Daniel S DS; Fouke, Sarah J SJ; Campian, Jian L JL; Dunn, Gavin P GP; Miller, Christopher A CA; Kim, Albert H AH
Publication Date: 2018-03-27

Variant appearance in text: POLE: G250A
PubMed Link: 29244145
Variant Present in the following documents:
  • Main text
View BVdb publication page