RB1 c.1960G>C ;(p.V654L)

Variant ID: 13-49030485-G-C

NM_000321.2(RB1):c.1960G>C;(p.V654L)

This variant was identified in 30 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: 1960G>C; Val654Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01

Variant appearance in text: RB1: 1960G>C; Val654Leu
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
  • iovs-64-2-5_s004.xlsx, sheet 1
View BVdb publication page



Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica
Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K
Publication Date: 2022-09-15

Variant appearance in text: N/A
PubMed Link: 36031351
Variant Present in the following documents:
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: V654L
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: RB1: 1960G>C; Val654Leu
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: RB1: V654L
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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>C; V654L
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_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: RB1: V654L; rs483352690
PubMed Link: 33247113
Variant Present in the following documents:
  • 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.

Bmc Medical Genetics
Zhang, Zhen Z; Xiao, Yi-Shuang YS; Shen, Ru R; Jiang, Hong-Chao HC; Tan, Li L; Li, Ren-Qiu RQ; Yang, Xiao-Hong XH; Gu, Huai-Yu HY; He, Wen-Ji WJ; Ma, Jing J
Publication Date: 2020-11-23

Variant appearance in text: RB1: 1960G>C; V654L
PubMed Link: 33225895
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1150.pdf
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: V654L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.

Frontiers In Genetics
Lan, Xiaoping X; Xu, Wuhen W; Tang, Xiaojun X; Ye, Haiyun H; Song, Xiaozhen X; Lin, Longlong L; Ren, Xiang X; Yu, Guangjun G; Zhang, Hong H; Wu, Shengnan S
Publication Date: 2020

Variant appearance in text: RB1: V654L
PubMed Link: 32218800
Variant Present in the following documents:
  • fgene-11-00142.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: RB1: V654L
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: RB1: 1960G>C; Val654Leu
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: N/A
PubMed Link: 31011206
Variant Present in the following documents:
View BVdb publication page



RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

Plos One
Parma, Diana D; Ferrer, Marcela M; Luce, Leonela L; Giliberto, Florencia F; Szijan, Irene I
Publication Date: 2017

Variant appearance in text: RB1: V654L
PubMed Link: 29261756
Variant Present in the following documents:
  • pone.0189736.pdf
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: V654L
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



APC/C and retinoblastoma interaction: cross-talk of retinoblastoma protein with the ubiquitin proteasome pathway.

Bioscience Reports
Ramanujan, Ajeena A; Tiwari, Swati S
Publication Date: 2016-10

Variant appearance in text: RB1: V654L
PubMed Link: 27402801
Variant Present in the following documents:
  • bsr036e377.pdf
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>C; V654L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: N/A
PubMed Link: 27224906
Variant Present in the following documents:
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>C; V654L
PubMed Link: 26925970
Variant Present in the following documents:
  • Main text
  • pgen.1005888.pdf
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: V654L
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



Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular Vision
He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J
Publication Date: 2014

Variant appearance in text: RB1: V654L
PubMed Link: 24791139
Variant Present in the following documents:
  • mv-v20-545.pdf
View BVdb publication page



From genes to health - challenges and opportunities.

Frontiers In Pediatrics
Manwar Hussain, Muhammad Ramzan MR; Khan, Asifullah A; Ali Mohamoud, Hussein Sheikh HS
Publication Date: 2014

Variant appearance in text: RB1: V654L
PubMed Link: 24624370
Variant Present in the following documents:
  • fped-02-00012.pdf
View BVdb publication page



The integrated landscape of driver genomic alterations in glioblastoma.

Nature Genetics
Frattini, Veronique V; Trifonov, Vladimir V; Chan, Joseph Minhow JM; Castano, Angelica A; Lia, Marie M; Abate, Francesco F; Keir, Stephen T ST; Ji, Alan X AX; Zoppoli, Pietro P; Niola, Francesco F; Danussi, Carla C; Dolgalev, Igor I; Porrati, Paola P; Pellegatta, Serena S; Heguy, Adriana A; Gupta, Gaurav G; Pisapia, David J DJ; Canoll, Peter P; Bruce, Jeffrey N JN; McLendon, Roger E RE; Yan, Hai H; Aldape, Ken K; Finocchiaro, Gaetano G; Mikkelsen, Tom T; Privé, Gilbert G GG; Bigner, Darell D DD; Lasorella, Anna A; Rabadan, Raul R; Iavarone, Antonio A
Publication Date: 2013-10

Variant appearance in text: RB1: V654L
PubMed Link: 23917401
Variant Present in the following documents:
  • NIHMS510851-supplement-3.xlsx, sheet 1
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: RB1: V654L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.

Bmc Medical Genetics
Hung, Chia-Cheng CC; Lin, Shin-Yu SY; Lee, Chien-Nan CN; Chen, Chih-Ping CP; Lin, Shuan-Pei SP; Chao, Mei-Chyn MC; Chiou, Shyh-Shin SS; Su, Yi-Ning YN
Publication Date: 2011-05-26

Variant appearance in text: RB1: 1960G>C; V654L
PubMed Link: 21615945
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-76.pdf
View BVdb publication page



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>C
PubMed Link: 19339519
Variant Present in the following documents:
  • Main text
  • gkp215.pdf
View BVdb publication page



RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

Bmc Genetics
Valverde, José R JR; Alonso, Javier J; Palacios, Itziar I; Pestaña, Angel A
Publication Date: 2005-11-04

Variant appearance in text: RB1: 1960G>C; V654L
PubMed Link: 16269091
Variant Present in the following documents:
  • Main text
  • 1471-2156-6-53.pdf
View BVdb publication page



Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

American Journal Of Human Genetics
Richter, Suzanne S; Vandezande, Kirk K; Chen, Ning N; Zhang, Katherine K; Sutherland, Joanne J; Anderson, Julie J; Han, Liping L; Panton, Rachel R; Branco, Patricia P; Gallie, Brenda B
Publication Date: 2003-02

Variant appearance in text: RB1: V654L
PubMed Link: 12541220
Variant Present in the following documents:
  • Main text
View BVdb publication page