POLE c.1286A>G ;(p.K429R)

Variant ID: 12-133250234-T-C

NM_006231.2(POLE):c.1286A>G;(p.K429R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Oncotargets And Therapy
Li, Yiran Y; He, Qizhi Q; Li, Shuangdi S; Wen, Xiaoli X; Ye, Lei L; Wang, Kai K; Wan, Xiaoping X
Publication Date: 2020

Variant appearance in text: POLE: K429R
PubMed Link: 32801757
Variant Present in the following documents:
  • Main text
  • ott-13-7305.pdf
View BVdb publication page



Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex.

Nature Communications
Teng, Teng T; Tsai, Jennifer Hc JH; Puyang, Xiaoling X; Seiler, Michael M; Peng, Shouyong S; Prajapati, Sudeep S; Aird, Daniel D; Buonamici, Silvia S; Caleb, Benjamin B; Chan, Betty B; Corson, Laura L; Feala, Jacob J; Fekkes, Peter P; Gerard, Baudouin B; Karr, Craig C; Korpal, Manav M; Liu, Xiang X; T Lowe, Jason J; Mizui, Yoshiharu Y; Palacino, James J; Park, Eunice E; Smith, Peter G PG; Subramanian, Vanitha V; Wu, Zhenhua Jeremy ZJ; Zou, Jian J; Yu, Lihua L; Chicas, Agustin A; Warmuth, Markus M; Larsen, Nicholas N; Zhu, Ping P
Publication Date: 2017-05-25

Variant appearance in text: POLE: K429R
PubMed Link: 28541300
Variant Present in the following documents:
  • ncomms15522-s2.xlsx, sheet 1
View BVdb publication page