RB1 c.298G>T ;(p.G100*)

Variant ID: 13-48916768-G-T

NM_000321.2(RB1):c.298G>T;(p.G100*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: RB1: G100*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Retinoblastoma mutation predicts poor outcomes in advanced non small cell lung cancer.

Cancer Medicine
Bhateja, Priyanka P; Chiu, Michelle M; Wildey, Gary G; Lipka, Mary Beth MB; Fu, Pingfu P; Yang, Michael Chiu Lee MCL; Ardeshir-Larijani, Fatemeh F; Sharma, Neelesh N; Dowlati, Afshin A
Publication Date: 2019-04

Variant appearance in text: RB1: G100*
PubMed Link: 30773851
Variant Present in the following documents:
  • Main text
  • CAM4-8-1459.pdf
View BVdb publication page



Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Nature Communications
Wagner, Alex H AH; Devarakonda, Siddhartha S; Skidmore, Zachary L ZL; Krysiak, Kilannin K; Ramu, Avinash A; Trani, Lee L; Kunisaki, Jason J; Masood, Ashiq A; Waqar, Saiama N SN; Spies, Nicholas C NC; Morgensztern, Daniel D; Waligorski, Jason J; Ponce, Jennifer J; Fulton, Robert S RS; Maggi, Leonard B LB; Weber, Jason D JD; Watson, Mark A MA; O'Conor, Christopher J CJ; Ritter, Jon H JH; Olsen, Rachelle R RR; Cheng, Haixia H; Mukhopadhyay, Anandaroop A; Can, Ismail I; Cessna, Melissa H MH; Oliver, Trudy G TG; Mardis, Elaine R ER; Wilson, Richard K RK; Griffith, Malachi M; Griffith, Obi L OL; Govindan, Ramaswamy R
Publication Date: 2018-09-17

Variant appearance in text: RB1: G100*
PubMed Link: 30224629
Variant Present in the following documents:
  • 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



The genomic landscape of small cell carcinoma of the esophagus.

Cell Research
Wang, Feng F; Liu, Dong-Bing DB; Zhao, Qi Q; Chen, Gang G; Liu, Xin-Ming XM; Wang, Ying-Nan YN; Su, Hong H; Qin, Yan-Ru YR; He, Yi-Fu YF; Zou, Qing-Feng QF; Liu, Yan-Hui YH; Lin, You-En YE; Liu, Ze-Xian ZX; Bei, Jin-Xin JX; Xu, Rui-Hua RH
Publication Date: 2018-07

Variant appearance in text: RB1: G100X
PubMed Link: 29728688
Variant Present in the following documents:
  • 41422_2018_39_MOESM18_ESM.xls, sheet 1
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: RB1: G100X
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page