RB1 c.2209G>T ;(p.E737*)

Variant ID: 13-49037969-G-T

NM_000321.2(RB1):c.2209G>T;(p.E737*)

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: 2209G>T; Glu737Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical application of a lung cancer organoid (tumoroid) culture system.

Npj Precision Oncology
Yokota, Etsuko E; Iwai, Miki M; Yukawa, Takuro T; Yoshida, Masakazu M; Naomoto, Yoshio Y; Haisa, Minoru M; Monobe, Yasumasa Y; Takigawa, Nagio N; Guo, Minzhe M; Maeda, Yutaka Y; Fukazawa, Takuya T; Yamatsuji, Tomoki T
Publication Date: 2021-04-12

Variant appearance in text: RB1: 2209G>T; E737*
PubMed Link: 33846488
Variant Present in the following documents:
  • Main text
  • 41698_2021_Article_166.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: RB1: 2209G>T; E737*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.

International Journal Of Cancer
Meder, Lydia L; König, Katharina K; Ozretić, Luka L; Schultheis, Anne M AM; Ueckeroth, Frank F; Ade, Carsten P CP; Albus, Kerstin K; Boehm, Diana D; Rommerscheidt-Fuss, Ursula U; Florin, Alexandra A; Buhl, Theresa T; Hartmann, Wolfgang W; Wolf, Jürgen J; Merkelbach-Bruse, Sabine S; Eilers, Martin M; Perner, Sven S; Heukamp, Lukas C LC; Buettner, Reinhard R
Publication Date: 2016-02-15

Variant appearance in text: RB1: 2209G>T; E737*
PubMed Link: 26340530
Variant Present in the following documents:
  • IJC-138-927-s005.xlsx, sheet 1
  • IJC-138-927-s005.xlsx, sheet 2
View BVdb publication page



RB1 mutations and second primary malignancies after hereditary retinoblastoma.

Familial Cancer
Dommering, Charlotte J CJ; Marees, Tamara T; van der Hout, Annemarie H AH; Imhof, Saskia M SM; Meijers-Heijboer, Hanne H; Ringens, Peter J PJ; van Leeuwen, Flora E FE; Moll, Annette C AC
Publication Date: 2012-06

Variant appearance in text: RB1: Glu737X
PubMed Link: 22205104
Variant Present in the following documents:
  • Main text
  • 10689_2011_Article_9505.pdf
View BVdb publication page