RB1 c.32_63del ;(p.A11Gfs*9)

Variant ID: 13-48878076-GCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC-G

NM_000321.2(RB1):c.32_63del;(p.A11Gfs*9)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RB1: 32_63del; Ala11fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.

Cancers
Alekseeva, Ekaterina A EA; Babenko, Olga V OV; Kozlova, Valentina M VM; Ushakova, Tatiana L TL; Kazubskaya, Tatiana P TP; Nemtsova, Marina V MV; Chesnokova, Galina G GG; Mikhaylenko, Dmitry S DS; Bure, Irina V IV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Tanas, Alexander S AS; Kutsev, Sergey I SI; Zaletaev, Dmitry V DV; Strelnikov, Vladimir V VV
Publication Date: 2021-10-10

Variant appearance in text: RB1: 32_63del
PubMed Link: 34680218
Variant Present in the following documents:
  • Main text
  • cancers-13-05068.pdf
View BVdb publication page



Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision
Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P
Publication Date: 2021

Variant appearance in text: RB1: 29_60del; A11Gfs*9
PubMed Link: 33456302
Variant Present in the following documents:
  • Main text
  • mv-v27-1.pdf
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: RB1: 29_60delCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC; A11Gfs*9
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page