POLE c.3796G>A ;(p.E1266K)

Variant ID: 12-133226101-C-T

NM_006231.2(POLE):c.3796G>A;(p.E1266K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: POLE: E1266K
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
View BVdb publication page



Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Frontiers In Genetics
Jiang, Miao M; Jia, Yongliang Y; Han, Jinming J; Shi, Jianxiang J; Su, Chang C; Zhang, Rui R; Xing, Menglu M; Jin, Shuiling S; Zong, Hong H
Publication Date: 2022

Variant appearance in text: POLE: 3796G>A; E1266K
PubMed Link: 36479248
Variant Present in the following documents:
  • Main text
  • fgene-13-963964.pdf
View BVdb publication page



Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

European Journal Of Human Genetics : Ejhg
Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF
Publication Date: 2021-08

Variant appearance in text: POLE: 3796G>A; Glu1266Lys
PubMed Link: 33867526
Variant Present in the following documents:
  • 41431_2021_886_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page