RB1 c.52G>A ;(p.A18T)

Variant ID: 13-48878100-G-A

NM_000321.2(RB1):c.52G>A;(p.A18T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy
Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG
Publication Date: 2023-04-26

Variant appearance in text: RB1: 52G>A
PubMed Link: 37099071
Variant Present in the following documents:
  • 40291_2023_651_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Knowledge-guided analysis of "omics" data using the KnowEnG cloud platform.

Plos Biology
Blatti, Charles C; Emad, Amin A; Berry, Matthew J MJ; Gatzke, Lisa L; Epstein, Milt M; Lanier, Daniel D; Rizal, Pramod P; Ge, Jing J; Liao, Xiaoxia X; Sobh, Omar O; Lambert, Mike M; Post, Corey S CS; Xiao, Jinfeng J; Groves, Peter P; Epstein, Aidan T AT; Chen, Xi X; Srinivasan, Subhashini S; Lehnert, Erik E; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard M RM; Song, Jun S JS; Jongeneel, C Victor CV; Han, Jiawei J; Ravaioli, Umberto U; Sobh, Nahil N; Bushell, Colleen B CB; Sinha, Saurabh S
Publication Date: 2020-01

Variant appearance in text: RB1: A18T
PubMed Link: 31971940
Variant Present in the following documents:
  • pbio.3000583.s006.xlsx, sheet 13
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: RB1: A18T
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
View BVdb publication page



Molecular Principles of Gene Fusion Mediated Rewiring of Protein Interaction Networks in Cancer.

Molecular Cell
Latysheva, Natasha S NS; Oates, Matt E ME; Maddox, Louis L; Flock, Tilman T; Gough, Julian J; Buljan, Marija M; Weatheritt, Robert J RJ; Babu, M Madan MM
Publication Date: 2016-08-18

Variant appearance in text: RB1: A18T
PubMed Link: 27540857
Variant Present in the following documents:
  • mmc8.xlsx, sheet 2
View BVdb publication page



Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy.

Translational Oncogenomics
Sun, Daochun D; Tainsky, Michael A MA; Haddad, Ramsi R
Publication Date: 2012

Variant appearance in text: RB1: A18T
PubMed Link: 22346343
Variant Present in the following documents:
  • Main text
  • tog-5-2012-001.pdf
View BVdb publication page