TP53 c.137C>T ;(p.S46F)

Variant ID: 17-7579550-G-A

NM_000546.5(TP53):c.137C>T;(p.S46F)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


The Competition of Yin and Yang: Exploring the Role of Wild-Type and Mutant p53 in Tumor Progression.

Biomedicines
Cai, Bi-He BH; Sung, Yu-Te YT; Chen, Chia-Chi CC; Shaw, Jei-Fu JF; Hsin, I-Lun IL
Publication Date: 2023-04-17

Variant appearance in text: p53: S46F
PubMed Link: 37189810
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01192.pdf
View BVdb publication page



ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: TP53: 137C>T
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
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: S46F
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: TP53: S46F
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.

Nature Communications
Vergara, Ismael A IA; Mintoff, Christopher P CP; Sandhu, Shahneen S; McIntosh, Lachlan L; Young, Richard J RJ; Wong, Stephen Q SQ; Colebatch, Andrew A; Cameron, Daniel L DL; Kwon, Julia Lai JL; Wolfe, Rory R; Peng, Angela A; Ellul, Jason J; Dou, Xuelin X; Fedele, Clare C; Boyle, Samantha S; Arnau, Gisela Mir GM; Raleigh, Jeanette J; Hatzimihalis, Athena A; Szeto, Pacman P; Mooi, Jennifer J; Widmer, Daniel S DS; Cheng, Phil F PF; Amann, Valerie V; Dummer, Reinhard R; Hayward, Nicholas N; Wilmott, James J; Scolyer, Richard A RA; Cho, Raymond J RJ; Bowtell, David D; Thorne, Heather H; Alsop, Kathryn K; Cordner, Stephen S; Woodford, Noel N; Leditschke, Jodie J; O'Brien, Patricia P; Dawson, Sarah-Jane SJ; McArthur, Grant A GA; Mann, Graham J GJ; Levesque, Mitchell P MP; Papenfuss, Anthony T AT; Shackleton, Mark M
Publication Date: 2021-03-04

Variant appearance in text: TP53: Ser46Phe
PubMed Link: 33664264
Variant Present in the following documents:
  • 41467_2021_21576_MOESM1_ESM.pdf
View BVdb publication page



Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Plos One
Gemović, Branislava B; Perović, Vladimir V; Davidović, Radoslav R; Drljača, Tamara T; Veljkovic, Nevena N
Publication Date: 2021

Variant appearance in text: TP53: S46F
PubMed Link: 33395407
Variant Present in the following documents:
  • Main text
  • pone.0244948.pdf
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: S46F
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Roles of p53 Family Structure and Function in Non-Canonical Response Element Binding and Activation.

International Journal Of Molecular Sciences
Cai, Bi-He BH; Chao, Chung-Faye CF; Huang, Hsiang-Chi HC; Lee, Hsueh-Yi HY; Kannagi, Reiji R; Chen, Jang-Yi JY
Publication Date: 2019-07-27

Variant appearance in text: p53: S46F
PubMed Link: 31357595
Variant Present in the following documents:
  • Main text
  • ijms-20-03681.pdf
View BVdb publication page



Molecular characterization of low grade and high grade bladder cancer.

Plos One
Apollo, Alessandro A; Ortenzi, Valerio V; Scatena, Cristian C; Zavaglia, Katia K; Aretini, Paolo P; Lessi, Francesca F; Franceschi, Sara S; Tomei, Sara S; Sepich, Carlo Alberto CA; Viacava, Paolo P; Mazzanti, Chiara Maria CM; Naccarato, Antonio Giuseppe AG
Publication Date: 2019

Variant appearance in text: TP53: S46F
PubMed Link: 30650148
Variant Present in the following documents:
  • Main text
  • pone.0210635.s002.xlsx, sheet 3
  • pone.0210635.pdf
View BVdb publication page



Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.

Molecular Oncology
Calapre, Leslie L; Giardina, Tindaro T; Robinson, Cleo C; Reid, Anna L AL; Al-Ogaili, Zeyad Z; Pereira, Michelle R MR; McEvoy, Ashleigh C AC; Warburton, Lydia L; Hayward, Nicholas K NK; Khattak, Muhammad A MA; Meniawy, Tarek M TM; Millward, Michael M; Amanuel, Benhur B; Ziman, Melanie M; Gray, Elin S ES
Publication Date: 2019-02

Variant appearance in text: TP53: S46F
PubMed Link: 30312528
Variant Present in the following documents:
  • Main text
  • MOL2-13-171-s003.xlsx, sheet 1
  • MOL2-13-171.pdf
View BVdb publication page



ELAS1 induces apoptotic death in adenocarcinoma DU145 and squamous-cell carcinoma SAS cancer cells, but not in normal KD cells.

Oncotarget
Uchihashi, Toshihiro T; Ota, Kaori K; Yabuno, Yusuke Y; Ohno, Shouichi S; Fukushima, Kohshiro K; Naito, Yoko Y; Kogo, Mikihiko M; Yabuta, Norikazu N; Nojima, Hiroshi H
Publication Date: 2017-10-17

Variant appearance in text: p53: S46F
PubMed Link: 29156763
Variant Present in the following documents:
  • Main text
  • oncotarget-08-85868-s001.pdf
  • oncotarget-08-85868.pdf
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: S46F
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Lysines in the tetramerization domain of p53 selectively modulate G1 arrest.

Cell Cycle (Georgetown, Tex.)
Beckerman, Rachel R; Yoh, Kathryn K; Mattia-Sansobrino, Melissa M; Zupnick, Andrew A; Laptenko, Oleg O; Karni-Schmidt, Orit O; Ahn, Jinwoo J; Byeon, In-Ja IJ; Keezer, Susan S; Prives, Carol C
Publication Date: 2016-06-02

Variant appearance in text: p53: S46F
PubMed Link: 27210019
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: p53: S46F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
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: S46F
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: S46F
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.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: p53: S46F
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.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: S46F
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



The (1-63) region of the p53 transactivation domain aggregates in vitro into cytotoxic amyloid assemblies.

Biophysical Journal
Rigacci, Stefania S; Bucciantini, Monica M; Relini, Annalisa A; Pesce, Alessandra A; Gliozzi, Alessandra A; Berti, Andrea A; Stefani, Massimo M
Publication Date: 2008-05-01

Variant appearance in text: p53: S46F
PubMed Link: 18199664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Requirement of clathrin heavy chain for p53-mediated transcription.

Genes & Development
Enari, Masato M; Ohmori, Kazuji K; Kitabayashi, Issay I; Taya, Yoichi Y
Publication Date: 2006-05-01

Variant appearance in text: p53: S46F
PubMed Link: 16618797
Variant Present in the following documents:
  • Main text
View BVdb publication page