RB1 c.1960G>A ;(p.V654M)

Variant ID: 13-49030485-G-A

NM_000321.2(RB1):c.1960G>A;(p.V654M)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
View BVdb publication page



Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Pan-cancer molecular tumor board experience with biomarker-driven precision immunotherapy.

Npj Precision Oncology
Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Okamura, Ryosuke R; Eskander, Ramez N RN; Botta, Gregory G; Patel, Hitendra H; Lee, Suzanna S; Lippman, Scott M SM; Sicklick, Jason K JK; Kurzrock, Razelle R
Publication Date: 2022-09-22

Variant appearance in text: RB1: V654M
PubMed Link: 36138116
Variant Present in the following documents:
  • 41698_2022_309_MOESM1_ESM.pdf
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: RB1: V654M
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Application of liquid biopsy-based targeted capture sequencing analysis to improve the precision treatment of non-small cell lung cancer by tyrosine kinase inhibitors.

Bmj Open Respiratory Research
Zhang, Lei L; Coffin, John J; Formenti, Kim K; Chu, Quincy Q; Izevbaye, Iyare I
Publication Date: 2022-01

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 35091437
Variant Present in the following documents:
  • Main text
  • bmjresp-2021-001154.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: 1960G>A; V654M
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.

Nature Communications
Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R
Publication Date: 2020-11-27

Variant appearance in text: rs483352690
PubMed Link: 33247113
Variant Present in the following documents:
  • 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: RB1: V654M
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The genomic landscape of Mongolian hepatocellular carcinoma.

Nature Communications
Candia, Julián J; Bayarsaikhan, Enkhjargal E; Tandon, Mayank M; Budhu, Anuradha A; Forgues, Marshonna M; Tovuu, Lkhagva-Ochir LO; Tudev, Undarmaa U; Lack, Justin J; Chao, Ann A; Chinburen, Jigjidsuren J; Wang, Xin Wei XW
Publication Date: 2020-09-01

Variant appearance in text: RB1: 1960G>A; V654M; rs483352690
PubMed Link: 32873799
Variant Present in the following documents:
  • 41467_2020_18186_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: RB1: V654M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



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: V654M
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Deep sequencing of circulating tumor DNA detects molecular residual disease and predicts recurrence in gastric cancer.

Cell Death & Disease
Yang, Jian J; Gong, Yuhua Y; Lam, Vincent K VK; Shi, Yan Y; Guan, Yanfang Y; Zhang, Yanyan Y; Ji, Liyan L; Chen, Yongsheng Y; Zhao, Yongliang Y; Qian, Feng F; Chen, Jun J; Li, Pingang P; Zhang, Fan F; Wang, Jiayin J; Zhang, Xuanping X; Yang, Ling L; Kopetz, Scott S; Futreal, P Andrew PA; Zhang, Jianjun J; Yi, Xin X; Xia, Xuefeng X; Yu, Peiwu P
Publication Date: 2020-05-11

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 32393783
Variant Present in the following documents:
  • 41419_2020_2531_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



What turns CREB on? And off? And why does it matter?

Cellular And Molecular Life Sciences : Cmls
Steven, André A; Friedrich, Michael M; Jank, Paul P; Heimer, Nadine N; Budczies, Jan J; Denkert, Carsten C; Seliger, Barbara B
Publication Date: 2020-10

Variant appearance in text: RB1: V654M
PubMed Link: 32347317
Variant Present in the following documents:
  • 18_2020_3525_MOESM1_ESM.pdf
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: RB1: 1960G>A
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ
Publication Date: 2020-02

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 31857723
Variant Present in the following documents:
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research
Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S
Publication Date: 2019

Variant appearance in text: RB1: 1960G>A; V654M; rs483352690
PubMed Link: 30867899
Variant Present in the following documents:
  • 13569_2019_112_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Molecular Vision
Nguyen, Ha Hai HH; Nguyen, Hoa Thi Thanh HTT; Vu, Nhung Phuong NP; Le, Quynh Thuy QT; Pham, Chau Minh CM; Huyen, Thuong Thi TT; Manh, Hung H; Pham, Hang Le Bich HLB; Nguyen, Ton Dang TD; Le, Hien Thi Thu HTT; Van Nong, Hai H
Publication Date: 2018

Variant appearance in text: RB1: 1960G>A
PubMed Link: 29568217
Variant Present in the following documents:
  • Main text
  • mv-v24-231.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: RB1: V654M; rs483352690
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: RB1: V654M
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, 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: 1960G>A; V654M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients.

Nature Communications
Chabon, Jacob J JJ; Simmons, Andrew D AD; Lovejoy, Alexander F AF; Esfahani, Mohammad S MS; Newman, Aaron M AM; Haringsma, Henry J HJ; Kurtz, David M DM; Stehr, Henning H; Scherer, Florian F; Karlovich, Chris A CA; Harding, Thomas C TC; Durkin, Kathleen A KA; Otterson, Gregory A GA; Purcell, W Thomas WT; Camidge, D Ross DR; Goldman, Jonathan W JW; Sequist, Lecia V LV; Piotrowska, Zofia Z; Wakelee, Heather A HA; Neal, Joel W JW; Alizadeh, Ash A AA; Diehn, Maximilian M
Publication Date: 2016-06-10

Variant appearance in text: RB1: V654M
PubMed Link: 27283993
Variant Present in the following documents:
  • ncomms11815-s1.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: RB1: V654M
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

Plos Genetics
Eloy, Philippine P; Dehainault, Catherine C; Sefta, Meriem M; Aerts, Isabelle I; Doz, François F; Cassoux, Nathalie N; Lumbroso le Rouic, Livia L; Stoppa-Lyonnet, Dominique D; Radvanyi, François F; Millot, Gaël A GA; Gauthier-Villars, Marion M; Houdayer, Claude C
Publication Date: 2016-02

Variant appearance in text: RB1: 1960G>A; Val654Met
PubMed Link: 26925970
Variant Present in the following documents:
  • Main text
  • pgen.1005888.pdf
View BVdb publication page



Outcome of children with hypodiploid ALL treated with risk-directed therapy based on MRD levels.

Blood
Mullighan, Charles G CG; Jeha, Sima S; Pei, Deqing D; Payne-Turner, Debbie D; Coustan-Smith, Elaine E; Roberts, Kathryn G KG; Waanders, Esmé E; Choi, John K JK; Ma, Xiaotu X; Raimondi, Susana C SC; Fan, Yiping Y; Yang, Wenjian W; Song, Guangchun G; Yang, Jun J JJ; Inaba, Hiroto H; Downing, James R JR; Leung, Wing H WH; Bowman, W Paul WP; Relling, Mary V MV; Evans, William E WE; Zhang, Jinghui J; Campana, Dario D; Pui, Ching-Hon CH
Publication Date: 2015-12-24

Variant appearance in text: RB1: V654M
PubMed Link: 26527677
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
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: V654M
PubMed Link: 26288819
Variant Present in the following documents:
  • mmc6.xlsx, sheet 2
  • mmc5.xlsx, sheet 2
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: RB1: V654M
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, 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: V654M
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Nature Genetics
Goh, Gerald G; Scholl, Ute I UI; Healy, James M JM; Choi, Murim M; Prasad, Manju L ML; Nelson-Williams, Carol C; Kunstman, John W JW; Kuntsman, John W JW; Korah, Reju R; Suttorp, Anna-Carinna AC; Dietrich, Dimo D; Haase, Matthias M; Willenberg, Holger S HS; Stålberg, Peter P; Hellman, Per P; Akerström, Göran G; Björklund, Peyman P; Carling, Tobias T; Lifton, Richard P RP
Publication Date: 2014-06

Variant appearance in text: RB1: V654M
PubMed Link: 24747643
Variant Present in the following documents:
  • NIHMS577752-supplement-1.pdf
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Melanoma genome sequencing reveals frequent PREX2 mutations.

Nature
Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA
Publication Date: 2012-05-09

Variant appearance in text: RB1: 1960G>A; V654M
PubMed Link: 22622578
Variant Present in the following documents:
  • NIHMS362881-supplement-3.xlsx, sheet 5
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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research
Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C
Publication Date: 2009-05

Variant appearance in text: RB1: 1960G>A
PubMed Link: 19339519
Variant Present in the following documents:
  • Main text
  • gkp215.pdf
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