POLE c.744C>A ;(p.Y248*)

Variant ID: 12-133254006-G-T

NM_006231.2(POLE):c.744C>A;(p.Y248*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas.

Cancer
Le Gallo, Matthieu M; Rudd, Meghan L ML; Urick, Mary Ellen ME; Hansen, Nancy F NF; , ; Merino, Maria J MJ; Mutch, David G DG; Goodfellow, Paul J PJ; Mullikin, James C JC; Bell, Daphne W DW
Publication Date: 2018-01-01

Variant appearance in text: POLE: Y248*
PubMed Link: 28940304
Variant Present in the following documents:
  • Main text
View BVdb publication page



VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: POLE: 744C>A; Y248*
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page