POLE c.2870C>G ;(p.A957G)

Variant ID: 12-133237745-G-C

NM_006231.2(POLE):c.2870C>G;(p.A957G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.

Cold Spring Harbor Molecular Case Studies
Moore, Colin C; Monforte, Hector H; Teer, Jamie K JK; Zhang, Yonghong Y; Yoder, Sean S; Brohl, Andrew S AS; Reed, Damon R DR
Publication Date: 2020-08

Variant appearance in text: POLE: A957G
PubMed Link: 32699065
Variant Present in the following documents:
  • supp_mcs.a004796_Supplemental_Table_1.xlsx, sheet 1
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: POLE: 2870C>G; Ala957Gly
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page