TP53 c.203A>C ;(p.E68A)

Variant ID: 17-7579484-T-G

NM_000546.5(TP53):c.203A>C;(p.E68A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.

Scientific Reports
Avagliano Trezza, Rossella R; Punt, A Mattijs AM; Mientjes, Edwin E; van den Berg, Marlene M; Zampeta, F Isabella FI; de Graaf, Ilona J IJ; van der Weegen, Yana Y; Demmers, Jeroen A A JAA; Elgersma, Ype Y; Distel, Ben B
Publication Date: 2021-02-04

Variant appearance in text: p53: E68A
PubMed Link: 33542309
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biological and clinical implications of BIRC3 mutations in chronic lymphocytic leukemia.

Haematologica
Diop, Fary F; Moia, Riccardo R; Favini, Chiara C; Spaccarotella, Elisa E; De Paoli, Lorenzo L; Bruscaggin, Alessio A; Spina, Valeria V; Terzi-di-Bergamo, Lodovico L; Arruga, Francesca F; Tarantelli, Chiara C; Deambrogi, Clara C; Rasi, Silvia S; Adhinaveni, Ramesh R; Patriarca, Andrea A; Favini, Simone S; Sagiraju, Sruthi S; Jabangwe, Clive C; Kodipad, Ahad A AA; Peroni, Denise D; Mauro, Francesca R FR; Giudice, Ilaria Del ID; Forconi, Francesco F; Cortelezzi, Agostino A; Zaja, Francesco F; Bomben, Riccardo R; Rossi, Francesca Maria FM; Visco, Carlo C; Chiarenza, Annalisa A; Rigolin, Gian Matteo GM; Marasca, Roberto R; Coscia, Marta M; Perbellini, Omar O; Tedeschi, Alessandra A; Laurenti, Luca L; Motta, Marina M; Donaldson, David D; Weir, Phil P; Mills, Ken K; Thornton, Patrick P; Lawless, Sarah S; Bertoni, Francesco F; Poeta, Giovanni Del GD; Cuneo, Antonio A; Follenzi, Antonia A; Gattei, Valter V; Boldorini, Renzo Luciano RL; Catherwood, Mark M; Deaglio, Silvia S; Foà, Robin R; Gaidano, Gianluca G; Rossi, Davide D
Publication Date: 2020

Variant appearance in text: TP53: E68A
PubMed Link: 31371416
Variant Present in the following documents:
  • Main text
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TP53: 203A>C; Glu68Ala
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 9
View BVdb publication page



Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation.

Cell
Malta, Tathiane M TM; Sokolov, Artem A; Gentles, Andrew J AJ; Burzykowski, Tomasz T; Poisson, Laila L; Weinstein, John N JN; Kamińska, Bożena B; Huelsken, Joerg J; Omberg, Larsson L; Gevaert, Olivier O; Colaprico, Antonio A; Czerwińska, Patrycja P; Mazurek, Sylwia S; Mishra, Lopa L; Heyn, Holger H; Krasnitz, Alex A; Godwin, Andrew K AK; Lazar, Alexander J AJ; , ; Stuart, Joshua M JM; Hoadley, Katherine A KA; Laird, Peter W PW; Noushmehr, Houtan H; Wiznerowicz, Maciej M
Publication Date: 2018-04-05

Variant appearance in text: TP53: E68A
PubMed Link: 29625051
Variant Present in the following documents:
  • Main text
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: E68A
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



APOBEC3B is an enzymatic source of mutation in breast cancer.

Nature
Burns, Michael B MB; Lackey, Lela L; Carpenter, Michael A MA; Rathore, Anurag A; Land, Allison M AM; Leonard, Brandon B; Refsland, Eric W EW; Kotandeniya, Delshanee D; Tretyakova, Natalia N; Nikas, Jason B JB; Yee, Douglas D; Temiz, Nuri A NA; Donohue, Duncan E DE; McDougle, Rebecca M RM; Brown, William L WL; Law, Emily K EK; Harris, Reuben S RS
Publication Date: 2013-02-21

Variant appearance in text: TP53: E68A
PubMed Link: 23389445
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effective formation of the segregation-competent complex determines successful partitioning of the bovine papillomavirus genome during cell division.

Journal Of Virology
Silla, Toomas T; Männik, Andres A; Ustav, Mart M
Publication Date: 2010-11

Variant appearance in text: p53: E68A
PubMed Link: 20810736
Variant Present in the following documents:
  • Main text
View BVdb publication page