RB1 c.1644del ;(p.K548Nfs*3)

Variant ID: 13-48955524-TA-T

NM_000321.2(RB1):c.1644del;(p.K548Nfs*3)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multimodal liquid biopsy for early monitoring and outcome prediction of chemotherapy in metastatic breast cancer.

Npj Breast Cancer
Bortolini Silveira, Amanda A; Bidard, François-Clément FC; Tanguy, Marie-Laure ML; Girard, Elodie E; Trédan, Olivier O; Dubot, Coraline C; Jacot, William W; Goncalves, Anthony A; Debled, Marc M; Levy, Christelle C; Ferrero, Jean-Marc JM; Jouannaud, Christelle C; Rios, Maria M; Mouret-Reynier, Marie-Ange MA; Dalenc, Florence F; Hego, Caroline C; Rampanou, Aurore A; Albaud, Benoit B; Baulande, Sylvain S; Berger, Frédérique F; Lemonnier, Jérôme J; Renault, Shufang S; Desmoulins, Isabelle I; Proudhon, Charlotte C; Pierga, Jean-Yves JY
Publication Date: 2021-09-09

Variant appearance in text: RB1: 1641delA
PubMed Link: 34504096
Variant Present in the following documents:
  • 41523_2021_319_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Capture and Detection of Circulating Glioma Cells Using the Recombinant VAR2CSA Malaria Protein.

Cells
Bang-Christensen, Sara R SR; Pedersen, Rasmus S RS; Pereira, Marina A MA; Clausen, Thomas M TM; Løppke, Caroline C; Sand, Nicolai T NT; Ahrens, Theresa D TD; Jørgensen, Amalie M AM; Lim, Yi Chieh YC; Goksøyr, Louise L; Choudhary, Swati S; Gustavsson, Tobias T; Dagil, Robert R; Daugaard, Mads M; Sander, Adam F AF; Torp, Mathias H MH; Søgaard, Max M; Theander, Thor G TG; Østrup, Olga O; Lassen, Ulrik U; Hamerlik, Petra P; Salanti, Ali A; Agerbæk, Mette Ø MØ
Publication Date: 2019-08-28

Variant appearance in text: RB1: 1644delA
PubMed Link: 31466397
Variant Present in the following documents:
  • Main text
  • cells-08-00998.pdf
View BVdb publication page



DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Cancers
Mithraprabhu, Sridurga S; Hocking, Jay J; Ramachandran, Malarmathy M; Choi, Kawa K; Klarica, Daniela D; Khong, Tiffany T; Reynolds, John J; Spencer, Andrew A
Publication Date: 2019-06-29

Variant appearance in text: RB1: K548fs*3
PubMed Link: 31261969
Variant Present in the following documents:
  • cancers-11-00917-s001.xlsx, sheet 2
View BVdb publication page