Publications:

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Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience

Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL

Publication Date: 2023-03-17

Variant appearance in text: TP53: 576G>T; Q192H

PubMed Link: 36879825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc2.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Cell Reports

Ramakrishnan, Gopalakrishnan G; Parajuli, Parash P; Singh, Pura P; Friend, Creighton C; Hurwitz, Eric E; Prunier, Celine C; Razzaque, Mohammed S MS; Xu, Keli K; Atfi, Azeddine A

Publication Date: 2022-11-08

Variant appearance in text: TP53: Q192H

PubMed Link: 36351408

Variant Present in the following documents:

• NIHMS1848910-supplement-2.xlsx, sheet 2
• NIHMS1848910-supplement-2.xlsx, sheet 3

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: TP53: 576G>T; Q192H

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 576G>T

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.

Jci Insight

Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R

Publication Date: 2022-04-22

Variant appearance in text: TP53: Q192H

PubMed Link: 35259128

Variant Present in the following documents:

• jciinsight-7-156534-s067.xlsx, sheet 1

View BVdb publication page

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Genetic profiles of Barrett's esophagus and esophageal adenocarcinoma in Japanese patients.

Scientific Reports

Tokunaga, Mamoru M; Okimoto, Kenichiro K; Akizue, Naoki N; Ishikawa, Kentaro K; Hirotsu, Yosuke Y; Amemiya, Kenji K; Ota, Masayuki M; Matsusaka, Keisuke K; Nishimura, Motoi M; Matsushita, Kazuyuki K; Ishikawa, Tsubasa T; Nagashima, Ariki A; Shiratori, Wataru W; Kaneko, Tatsuya T; Oura, Hirotaka H; Kanayama, Kengo K; Ohta, Yuki Y; Taida, Takashi T; Saito, Keiko K; Matsumura, Tomoaki T; Chiba, Tetsuhiro T; Mochizuki, Hitoshi H; Arai, Makoto M; Kato, Jun J; Ikeda, Jun-Ichiro JI; Omata, Masao M; Kato, Naoya N

Publication Date: 2021-09-03

Variant appearance in text: TP53: Q192H

PubMed Link: 34480065

Variant Present in the following documents:

• Main text
• 41598_2021_Article_97249.pdf

View BVdb publication page

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Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas.

Scientific Reports

Kazarian, Eve E; Marks, Asher A; Cui, Jin J; Darbinyan, Armine A; Tong, Elizabeth E; Mueller, Sabine S; Cha, Soonmee S; Aboian, Mariam S MS

Publication Date: 2021-07-13

Variant appearance in text: TP53: Q192H

PubMed Link: 34257334

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92943.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 576G>T; Q192H

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Frontiers In Oncology

Li, Hainan H; Shan, Changguo C; Wu, Shengnan S; Cheng, Baijie B; Fan, Chongzu C; Cai, Linbo L; Chen, Yedan Y; Shi, Yuqian Y; Liu, Kaihua K; Shao, Yang Y; Zhu, Dan D; Li, Zhi Z

Publication Date: 2020

Variant appearance in text: N/A

PubMed Link: 33747896

Variant Present in the following documents:

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: TP53: 576G>T; Q192H

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: p53: Q192H

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: Q192H

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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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: TP53: 576G>T; Q192H

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: TP53: 576G>T; Q192H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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TP53 Mutational Status and Prediction of Benefit from Adjuvant 5-Fluorouracil in Stage III Colon Cancer Patients.

Ebiomedicine

Kandioler, Daniela D; Mittlböck, Martina M; Kappel, Sonja S; Puhalla, Harald H; Herbst, Friedrich F; Langner, Cord C; Wolf, Brigitte B; Tschmelitsch, Jörg J; Schippinger, Walter W; Steger, Günther G; Hofbauer, Friedrich F; Samonigg, Hellmut H; Gnant, Michael M; Teleky, Bela B; Kührer, Irene I; ,

Publication Date: 2015-08

Variant appearance in text: TP53: Gln192His

PubMed Link: 26425688

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: Q192H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: Q192H

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.

Plos One

Wang, Yan Y; Hong, Yu Y; Li, Man M; Long, Jiang J; Zhao, Yan-Ping YP; Zhang, Jun-Xia JX; Li, Qian Q; You, Hong H; Tong, Wei-Min WM; Jia, Ji-Dong JD; Huang, Jian J

Publication Date: 2013

Variant appearance in text: TP53: Q192H

PubMed Link: 24349281

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: TP53: Q192H

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Plos One

Chen, Zhenbin Z; Feng, Jinong J; Buzin, Carolyn H CH; Sommer, Steve S SS

Publication Date: 2008

Variant appearance in text: TP53: Q192H

PubMed Link: 19005564

Variant Present in the following documents:

• pone.0003714.s007.xls, sheet 1

View BVdb publication page

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