RB1 c.2420C>G ;(p.S807*)

Variant ID: 13-49039435-C-G

NM_000321.2(RB1):c.2420C>G;(p.S807*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One
Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R
Publication Date: 2021

Variant appearance in text: RB1: S807*
PubMed Link: 33556149
Variant Present in the following documents:
  • pone.0246048.s008.xlsx, sheet 1
View BVdb publication page



Molecular Changes in Retinoblastoma beyond RB1: Findings from Next-Generation Sequencing.

Cancers
Francis, Jasmine H JH; Richards, Allison L AL; Mandelker, Diana L DL; Berger, Michael F MF; Walsh, Michael F MF; Dunkel, Ira J IJ; Donoghue, Mark T A MTA; Abramson, David H DH
Publication Date: 2021-01-05

Variant appearance in text: RB1: S807*
PubMed Link: 33466343
Variant Present in the following documents:
  • Main text
  • cancers-13-00149.pdf
View BVdb publication page



The genomic landscape of small cell carcinoma of the esophagus.

Cell Research
Wang, Feng F; Liu, Dong-Bing DB; Zhao, Qi Q; Chen, Gang G; Liu, Xin-Ming XM; Wang, Ying-Nan YN; Su, Hong H; Qin, Yan-Ru YR; He, Yi-Fu YF; Zou, Qing-Feng QF; Liu, Yan-Hui YH; Lin, You-En YE; Liu, Ze-Xian ZX; Bei, Jin-Xin JX; Xu, Rui-Hua RH
Publication Date: 2018-07

Variant appearance in text: RB1: S807X
PubMed Link: 29728688
Variant Present in the following documents:
  • 41422_2018_39_MOESM18_ESM.xls, sheet 1
View BVdb publication page



Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Rudin, Charles M CM; Hong, Kelvin K; Streit, Michael M
Publication Date: 2013-05

Variant appearance in text: RB1: S807*
PubMed Link: 23524406
Variant Present in the following documents:
  • Main text
View BVdb publication page