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

Variant ID: 12-133254006-G-C

NM_006231.2(POLE):c.744C>G;(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



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: POLE: 744C>G; Tyr248*
PubMed Link: 28050010
Variant Present in the following documents:
View BVdb publication page