RB1 c.2023G>T ;(p.E675*)

Variant ID: 13-49033886-G-T

NM_000321.2(RB1):c.2023G>T;(p.E675*)

This variant was identified in 5 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: 2023G>T; Glu675Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Human papillomavirus-related neoplasia of the ocular adnexa.

Acta Ophthalmologica
Ramberg, Ingvild Margrethe Sellaeg IMS
Publication Date: 2022-10

Variant appearance in text: RB1: E675*
PubMed Link: 36203222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Investigative Ophthalmology & Visual Science
Ramberg, Ingvild I; Vieira, Filipe Garrett FG; Toft, Peter Bjerre PB; von Buchwald, Christian C; Funding, Mikkel M; Nielsen, Finn Cilius FC; Heegaard, Steffen S
Publication Date: 2021-11-01

Variant appearance in text: RB1: E675*
PubMed Link: 34779821
Variant Present in the following documents:
  • Main text
  • iovs-62-14-11.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: RB1: 2023G>T; E675*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Single nucleotide polymorphism detection by combinatorial fluorescence energy transfer tags and biotinylated dideoxynucleotides.

Nucleic Acids Research
Tong, Anthony K AK; Ju, Jingyue J
Publication Date: 2002-03-01

Variant appearance in text: RB1: E675X
PubMed Link: 11861924
Variant Present in the following documents:
  • Main text
View BVdb publication page