POLE c.220G>C ;(p.E74Q)

Variant ID: 12-133257258-C-G

NM_006231.2(POLE):c.220G>C;(p.E74Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One
Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D
Publication Date: 2022

Variant appearance in text: POLE: 220G>C; Glu74Gln
PubMed Link: 36155654
Variant Present in the following documents:
  • pone.0275121.s001.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Scientific Reports
Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2020-12-31

Variant appearance in text: POLE: E74Q
PubMed Link: 33384420
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_78370.pdf
View BVdb publication page