RB1 c.2390T>C ;(p.L797S)

Variant ID: 13-49039405-T-C

NM_000321.2(RB1):c.2390T>C;(p.L797S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Mechanism of EGFR-TKI Resistance in EGFR-Mutated Non-Small Cell Lung Cancer: Application to Biological Diagnostic and Monitoring.

Cancers
Reita, Damien D; Pabst, Lucile L; Pencreach, Erwan E; Guérin, Eric E; Dano, Laurent L; Rimelen, Valérie V; Voegeli, Anne-Claire AC; Vallat, Laurent L; Mascaux, Céline C; Beau-Faller, Michèle M
Publication Date: 2021-09-30

Variant appearance in text: RB1: L797S
PubMed Link: 34638411
Variant Present in the following documents:
  • Main text
  • cancers-13-04926.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: RB1: L797S
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s2.xlsx, sheet 17
View BVdb publication page