POLE c.140_141delinsAT ;(p.R47H)

Variant ID: 12-133257787-CC-AT

NM_006231.2(POLE):c.140_141delinsAT;(p.R47H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


ALDH2 gene rs671 G > a polymorphism and the risk of colorectal cancer: A hospital-based study.

Journal Of Clinical Laboratory Analysis
Zhang, Zhuoxin Z; Chen, Yijin Y; Zhuo, Qingqing Q; Deng, Changqing C; Yang, Yang Y; Luo, Wen W; Lai, Shixun S; Rao, Hui H
Publication Date: 2022-11-25

Variant appearance in text: POLE: Arg47His
PubMed Link: 36426922
Variant Present in the following documents:
  • JCLA-36-e24789.pdf
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: R47H
PubMed Link: 33384420
Variant Present in the following documents:
  • Main text
View BVdb publication page