RB1 c.2284C>T ;(p.Q762*)

Variant ID: 13-49039206-C-T

NM_000321.2(RB1):c.2284C>T;(p.Q762*)

This variant was identified in 9 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: 2284C>T; Gln762Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 2284C>T; Q762X
PubMed Link: 33456302
Variant Present in the following documents:
  • Main text
  • mv-v27-1.pdf
View BVdb publication page



Mixed large cell neuroendocrine carcinoma and squamous cell carcinoma of the colon: detailed molecular characterisation of two cases indicates a distinct colorectal cancer entity.

The Journal Of Pathology. Clinical Research
Woischke, Christine C; Jung, Peter P; Jung, Andreas A; Kumbrink, Jörg J; Eisenlohr, Sibylle S; Auernhammer, Christoph Josef CJ; Vieth, Michael M; Kirchner, Thomas T; Neumann, Jens J
Publication Date: 2021-01

Variant appearance in text: RB1: 2284C>T; Gln762Ter
PubMed Link: 33197299
Variant Present in the following documents:
  • Main text
  • CJP2-7-75.pdf
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: RB1: 2284C>T; Gln762Ter
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: RB1: 2284C>T; Q762*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer.

Ebiomedicine
Yu, Xian-Jun XJ; Yang, Min-Jun MJ; Zhou, Bo B; Wang, Gui-Zhen GZ; Huang, Yun-Chao YC; Wu, Li-Chuan LC; Cheng, Xin X; Wen, Zhe-Sheng ZS; Huang, Jin-Yan JY; Zhang, Yun-Dong YD; Gao, Xiao-Hong XH; Li, Gao-Feng GF; He, Shui-Wang SW; Gu, Zhao-Hui ZH; Ma, Liang L; Pan, Chun-Ming CM; Wang, Ping P; Chen, Hao-Bin HB; Hong, Zhi-Peng ZP; Wang, Xiao-Lu XL; Mao, Wen-Jing WJ; Jin, Xiao-Long XL; Kang, Hui H; Chen, Shu-Ting ST; Zhu, Yong-Qiang YQ; Gu, Wen-Yi WY; Liu, Zi Z; Dong, Hui H; Tian, Lin-Wei LW; Chen, Sai-Juan SJ; Cao, Yi Y; Wang, Sheng-Yue SY; Zhou, Guang-Biao GB
Publication Date: 2015-06

Variant appearance in text: RB1: Q762*
PubMed Link: 26288819
Variant Present in the following documents:
  • mmc6.xlsx, sheet 2
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: RB1: 2284C>T; Gln762Ter
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: RB1: Q762*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



RB1 gene inactivation by chromothripsis in human retinoblastoma.

Oncotarget
McEvoy, Justina J; Nagahawatte, Panduka P; Finkelstein, David D; Richards-Yutz, Jennifer J; Valentine, Marcus M; Ma, Jing J; Mullighan, Charles C; Song, Guangchun G; Chen, Xiang X; Wilson, Matthew M; Brennan, Rachel R; Pounds, Stanley S; Becksfort, Jared J; Huether, Robert R; Lu, Charles C; Fulton, Robert S RS; Fulton, Lucinda L LL; Hong, Xin X; Dooling, David J DJ; Ochoa, Kerri K; Mardis, Elaine R ER; Wilson, Richard K RK; Easton, John J; Zhang, Jinghui J; Downing, James R JR; Ganguly, Arupa A; Dyer, Michael A MA
Publication Date: 2014-01-30

Variant appearance in text: RB1: Q762*
PubMed Link: 24509483
Variant Present in the following documents:
  • oncotarget-05-438-s002.xlsx, sheet 9
View BVdb publication page