RB1 c.1649T>C ;(p.L550S)

Variant ID: 13-48955533-T-C

NM_000321.2(RB1):c.1649T>C;(p.L550S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: RB1: 1649T>C; L550S
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: RB1: 1649T>C; L550S
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s023.xlsx, sheet 1
View BVdb publication page