POLE c.1421T>C ;(p.V474A)

Variant ID: 12-133249802-A-G

NM_006231.2(POLE):c.1421T>C;(p.V474A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Journal Of Cancer
Liu, Qiang Q; Tan, Yue-Qiu YQ
Publication Date: 2019

Variant appearance in text: POLE: 1421T>C
PubMed Link: 30719162
Variant Present in the following documents:
  • jcav10p0643.pdf
View BVdb publication page



Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients.

Plos One
Thean, Lai Fun LF; Wong, Yu Hui YH; Lo, Michelle M; Loi, Carol C; Chew, Min Hoe MH; Tang, Choong Leong CL; Cheah, Peh Yean PY
Publication Date: 2017

Variant appearance in text: POLE: 1421T>C
PubMed Link: 28306719
Variant Present in the following documents:
  • Main text
  • pone.0173772.pdf
View BVdb publication page