POLE c.44C>T ;(p.A15V)

Variant ID: 12-133263858-G-A

NM_006231.2(POLE):c.44C>T;(p.A15V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 44C>T; Ala15Val
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Elevated expression of LPCAT1 predicts a poor prognosis and is correlated with the tumour microenvironment in endometrial cancer.

Cancer Cell International
Zhao, Tianyi T; Zhang, Yifang Y; Ma, Xiaohong X; Wei, Lina L; Hou, Yixin Y; Sun, Rui R; Jiang, Jie J
Publication Date: 2021-05-20

Variant appearance in text: POLE: A15V
PubMed Link: 34016103
Variant Present in the following documents:
  • 12935_2021_1965_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer inference of intra-tumor heterogeneity reveals associations with different forms of genomic instability.

Plos Genetics
Raynaud, Franck F; Mina, Marco M; Tavernari, Daniele D; Ciriello, Giovanni G
Publication Date: 2018-09

Variant appearance in text: POLE: A15V
PubMed Link: 30212491
Variant Present in the following documents:
  • pgen.1007669.s008.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: POLE: A15V
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-3.xlsx, sheet 1
View BVdb publication page



Mutation Clusters from Cancer Exome.

Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15

Variant appearance in text: POLE: A15V
PubMed Link: 28809811
Variant Present in the following documents:
  • Main text
  • genes-08-00201.pdf
View BVdb publication page