TP53 c.760A>G ;(p.I254V)

Variant ID: 17-7577521-T-C

NM_000546.5(TP53):c.760A>G;(p.I254V)

This variant was identified in 39 publications

View GRCh38 version.




Publications:


Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Human Genomics
Zakaria, Nermine H NH; Hashad, Doaa D; Saied, Marwa H MH; Hegazy, Neamat N; Elkayal, Alyaa A; Tayae, Eman E
Publication Date: 2023-05-18

Variant appearance in text: TP53: Ile254Val; rs746601313
PubMed Link: 37202799
Variant Present in the following documents:
  • Main text
  • 40246_2023_Article_493.pdf
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: TP53: 760A>G; I254V; rs746601313
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: TP53: I254V
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: TP53: I254V
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 7
View BVdb publication page



New Insights into Melanoma Tumor Syndromes.

Jid Innovations : Skin Science From Molecules To Population Health
Rashid, Sarem S; Gupta, Sameer S; McCormick, Shelley R SR; Tsao, Hensin H
Publication Date: 2022-11

Variant appearance in text: TP53: I254V
PubMed Link: 36387771
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics
Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA
Publication Date: 2022-11-10

Variant appearance in text: TP53: 760A>G; Ile254Val; rs746601313
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s001.xlsx, sheet 1
View BVdb publication page



Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS
Publication Date: 2022-10-06

Variant appearance in text: TP53: I254V
PubMed Link: 36202073
Variant Present in the following documents:
  • pat-0090-0166-s01.pdf
View BVdb publication page



TP53 mutations and RNA-binding protein MUSASHI-2 drive resistance to PRMT5-targeted therapy in B-cell lymphoma.

Nature Communications
Erazo, Tatiana T; Evans, Chiara M CM; Zakheim, Daniel D; Chu, Karen L KL; Refermat, Alice Yunsi AY; Asgari, Zahra Z; Yang, Xuejing X; Da Silva Ferreira, Mariana M; Mehta, Sanjoy S; Russo, Marco Vincenzo MV; Knezevic, Andrea A; Zhang, Xi-Ping XP; Chen, Zhengming Z; Fennell, Myles M; Garippa, Ralph R; Seshan, Venkatraman V; de Stanchina, Elisa E; Barbash, Olena O; Batlevi, Connie Lee CL; Leslie, Christina S CS; Melnick, Ari M AM; Younes, Anas A; Kharas, Michael G MG
Publication Date: 2022-09-27

Variant appearance in text: TP53: I254V
PubMed Link: 36167829
Variant Present in the following documents:
  • 41467_2022_33137_MOESM1_ESM.pdf
View BVdb publication page



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: 760A>G
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics
Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S
Publication Date: 2022-03-10

Variant appearance in text: TP53: 760A>G; I254V; rs746601313
PubMed Link: 35043155
Variant Present in the following documents:
  • Main text
  • supplementary_figure_s4a_and_b_bbab524.pdf
  • supplementary_table_s7_bbab524.xlsx, sheet 2
  • bbab524.pdf
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: TP53: I254V
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



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: 760A>G; I254V
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



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: 760A>G; I254V
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.

Computational And Structural Biotechnology Journal
Tam, Benjamin B; Sinha, Siddharth S; Wang, San Ming SM
Publication Date: 2020

Variant appearance in text: TP53: I254V
PubMed Link: 33363700
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx, sheet 1
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: TP53: 760A>G
PubMed Link: 33257846
Variant Present in the following documents:
  • Main text
  • 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 41418_2020_Article_672.pdf
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: TP53: 760A>G
PubMed Link: 33257846
Variant Present in the following documents:
  • Main text
  • 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 41418_2020_Article_672.pdf
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
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: TP53: I254V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



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: I254V
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Foundation One Genomic Interrogation of Thyroid Cancers in Patients With Metastatic Disease Requiring Systemic Therapy.

The Journal Of Clinical Endocrinology And Metabolism
Iñiguez-Ariza, Nicole M NM; Jasim, Sina S; Ryder, Mabel M MM; Chintakuntlawar, Ashish V AV; Morris, John C JC; Hilger, Crystal R CR; Menefee, Michael E ME; Smallridge, Robert C RC; Karlin, Nina J NJ; Alcaino, Constanza C; Bible, Keith C KC
Publication Date: 2020-07-01

Variant appearance in text: TP53: I254V
PubMed Link: 32421817
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04

Variant appearance in text: TP53: Ile254Val; rs746601313
PubMed Link: 32268276
Variant Present in the following documents:
  • mmc5.xlsx, sheet 5
  • mmc5.xlsx, sheet 2
View BVdb publication page



Functional Classification of TP53 Mutations in Acute Myeloid Leukemia.

Cancers
Dutta, Sayantanee S; Pregartner, Gudrun G; Rücker, Frank G FG; Heitzer, Ellen E; Zebisch, Armin A; Bullinger, Lars L; Berghold, Andrea A; Döhner, Konstanze K; Sill, Heinz H
Publication Date: 2020-03-10

Variant appearance in text: p53: 760A>G
PubMed Link: 32164171
Variant Present in the following documents:
  • Main text
  • cancers-12-00637.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: TP53: I254V
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



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: I254V
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TP53: 760A>G; Ile254Val
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08

Variant appearance in text: TP53: 760A>G; Ile254Val
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.

Haematologica
Prochazka, Katharina T KT; Pregartner, Gudrun G; Rücker, Frank G FG; Heitzer, Ellen E; Pabst, Gabriel G; Wölfler, Albert A; Zebisch, Armin A; Berghold, Andrea A; Döhner, Konstanze K; Sill, Heinz H
Publication Date: 2019-03

Variant appearance in text: TP53: 760A>G; I254V
PubMed Link: 30309854
Variant Present in the following documents:
  • 2018.205013.PROCHAZKA_SUPPL.pdf
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: TP53: 760A>G; I254V; rs746601313
PubMed Link: 29769598
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_26040.pdf
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 2
  • 41598_2018_26040_MOESM1_ESM.pdf
View BVdb publication page



Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Publication Date: 2018

Variant appearance in text: TP53: I254V
PubMed Link: 29649263
Variant Present in the following documents:
  • pone.0195761.s006.xlsx, sheet 1
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: I254V
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s008.xlsx, sheet 1
View BVdb publication page



Mitochondrial genome variation and prostate cancer: a review of the mutational landscape and application to clinical management.

Oncotarget
Kalsbeek, Anton M F AMF; Chan, Eva K F EKF; Corcoran, Niall M NM; Hovens, Christopher M CM; Hayes, Vanessa M VM
Publication Date: 2017-09-19

Variant appearance in text: TP53: I254V
PubMed Link: 29050365
Variant Present in the following documents:
  • Main text
  • oncotarget-08-71342.pdf
View BVdb publication page



Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma.

Rare Tumors
Davila, Jaime I JI; Starr, Jason S JS; Attia, Steven S; Wang, Chen C; Knudson, Ryan A RA; Necela, Brian M BM; Sarangi, Vivekananda V; Sun, Zhifu Z; Ren, Yingxue Y; Casler, John D JD; Menke, David M DM; Oliver, Gavin R GR; Joseph, Richard W RW; Copland, John A JA; Parker, Alexander S AS; Kocher, Jean-Pierre A JA; Thompson, E Aubrey EA; Smallridge, Robert C RC; Asmann, Yan W YW
Publication Date: 2017-07-03

Variant appearance in text: TP53: I254V
PubMed Link: 28975018
Variant Present in the following documents:
  • Main text
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: TP53: 760A>G; I254V
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016

Variant appearance in text: TP53: I254V
PubMed Link: 27930734
Variant Present in the following documents:
  • pone.0167847.s002.xls, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: TP53: I254V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.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: TP53: 760A>G; I254V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



TP53 Mutation Spectrum in Smokers and Never Smoking Lung Cancer Patients.

Frontiers In Genetics
Halvorsen, Ann R AR; Silwal-Pandit, Laxmi L; Meza-Zepeda, Leonardo A LA; Vodak, Daniel D; Vu, Phuong P; Sagerup, Camilla C; Hovig, Eivind E; Myklebost, Ola O; Børresen-Dale, Anne-Lise AL; Brustugun, Odd T OT; Helland, Åslaug Å
Publication Date: 2016

Variant appearance in text: TP53: I254V
PubMed Link: 27242894
Variant Present in the following documents:
  • Main text
  • fgene-07-00085.pdf
View BVdb publication page



REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports
Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF
Publication Date: 2016-03-15

Variant appearance in text: TP53: I254V
PubMed Link: 26975833
Variant Present in the following documents:
  • srep23167-s9.xls, sheet 1
View BVdb publication page



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: I254V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



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: I254V
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.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: TP53: I254V
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page