RB1 c.937G>T ;(p.E313*)

Variant ID: 13-48939105-G-T

NM_000321.2(RB1):c.937G>T;(p.E313*)

This variant was identified in 3 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: 937G>T; Glu313Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Blood-Based Surveillance Monitoring of Circulating Tumor DNA From Patients With SCLC Detects Disease Relapse and Predicts Death in Patients With Limited-Stage Disease.

Jto Clinical And Research Reports
Iams, Wade T WT; Kopparapu, Prasad R PR; Yan, Yingjun Y; Muterspaugh, Anel A; Zhao, Zhiguo Z; Chen, Heidi H; Cann, Christopher C; York, Sally S; Horn, Leora L; Ancell, Kristin K; Wyman, Kenneth K; Bertucci, Caterina C; Shaffer, Tristan T; Hodsdon, Lauren A LA; Garg, Kavita K; Hosseini, Seyed Ali SA; Lim, Lee P LP; Lovly, Christine M CM
Publication Date: 2020-06

Variant appearance in text: RB1: E313*
PubMed Link: 34589931
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.

Plos One
Ayari-Jeridi, Hajer H; Moran, Kimberly K; Chebbi, Amel A; Bouguila, Hédi H; Abbes, Imen I; Charradi, Khaoula K; Benammar-Elgaaïed, Amel A; Ganguly, Arupa A
Publication Date: 2015

Variant appearance in text: RB1: 937G>T; Glu313X
PubMed Link: 25602518
Variant Present in the following documents:
  • Main text
  • pone.0116615.s001.xlsx, sheet 3
  • pone.0116615.s001.xlsx, sheet 4
  • pone.0116615.pdf
View BVdb publication page