TP53 c.719G>A ;(p.S240N)

Variant ID: 17-7577562-C-T

NM_000546.5(TP53):c.719G>A;(p.S240N)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TP53: 719G>A; G240E
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Science Translational Medicine
Tlemsani, Camille C; Takahashi, Nobuyuki N; Pongor, Lorinc L; Rajapakse, Vinodh N VN; Tyagi, Manoj M; Wen, Xinyu X; Fasaye, Grace-Ann GA; Schmidt, Keith T KT; Desai, Parth P; Kim, Chul C; Rajan, Arun A; Swift, Shannon S; Sciuto, Linda L; Vilimas, Rasa R; Webb, Santhana S; Nichols, Samantha S; Figg, William Douglas WD; Pommier, Yves Y; Calzone, Kathleen K; Steinberg, Seth M SM; Wei, Jun S JS; Guha, Udayan U; Turner, Clesson E CE; Khan, Javed J; Thomas, Anish A
Publication Date: 2021-01-27

Variant appearance in text: TP53: 719G>A; G240E
PubMed Link: 33504652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic characterization of a unique neuroendocrine transdifferentiation prostate circulating tumor cell-derived eXplant model.

Nature Communications
Faugeroux, Vincent V; Pailler, Emma E; Oulhen, Marianne M; Deas, Olivier O; Brulle-Soumare, Laura L; Hervieu, Céline C; Marty, Virginie V; Alexandrova, Kamelia K; Andree, Kiki C KC; Stoecklein, Nikolas H NH; Tramalloni, Dominique D; Cairo, Stefano S; NgoCamus, Maud M; Nicotra, Claudio C; Terstappen, Leon W M M LWMM; Manaresi, Nicolo N; Lapierre, Valérie V; Fizazi, Karim K; Scoazec, Jean-Yves JY; Loriot, Yohann Y; Judde, Jean-Gabriel JG; Farace, Françoise F
Publication Date: 2020-04-20

Variant appearance in text: TP53: 719G>A; G240E
PubMed Link: 32313004
Variant Present in the following documents:
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 2
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 13
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 10
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 3
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 9
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 6
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 12
  • 41467_2020_15426_MOESM5_ESM.xlsx, sheet 11
View BVdb publication page



DNA sequencing of cytopathologically inconclusive EUS-FNA from solid pancreatic lesions suspicious for malignancy confirms EUS diagnosis.

Endoscopic Ultrasound
Plougmann, Julie Isabelle JI; Klausen, Pia P; Toxvaerd, Anders A; Abedi, Armita Armina AA; Kovacevic, Bojan B; Karstensen, John Gásdal JG; Poulsen, Tim Svenstrup TS; Kalaitzakis, Evangelos E; Høgdall, Estrid E; Vilmann, Peter P
Publication Date: 2020

Variant appearance in text: TP53: S240N
PubMed Link: 31552911
Variant Present in the following documents:
  • Main text
  • EUS-9-37.pdf
View BVdb publication page



Functional Rescue of Cataract-Causing αA-G98R-Crystallin by Targeted Compensatory Suppressor Mutations in Human αA-Crystallin.

Biochemistry
Phadte, Ashutosh S AS; Mahalingam, Sundararajan S; Santhoshkumar, Puttur P; Sharma, Krishna K KK
Publication Date: 2019-10-08

Variant appearance in text: p53: S240N
PubMed Link: 31523965
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: TP53: 719G>A; Ser240Asn
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
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: S240N
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Simulations of mutant p53 DNA binding domains reveal a novel druggable pocket.

Nucleic Acids Research
Pradhan, Mohan R MR; Siau, Jia Wei JW; Kannan, Srinivasaraghavan S; Nguyen, Minh N MN; Ouaray, Zohra Z; Kwoh, Chee Keong CK; Lane, David P DP; Ghadessy, Farid F; Verma, Chandra S CS
Publication Date: 2019-02-28

Variant appearance in text: p53: S240N
PubMed Link: 30649466
Variant Present in the following documents:
  • Main text
  • gky1314.pdf
View BVdb publication page



p53, p63 and p73 in the wonderland of S. cerevisiae.

Oncotarget
Billant, Olivier O; Blondel, Marc M; Voisset, Cécile C
Publication Date: 2017-08-22

Variant appearance in text: p53: S240N
PubMed Link: 28915717
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: 719G>A
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, 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: S240N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine
Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM
Publication Date: 2016-05-04

Variant appearance in text: TP53: Ser240Asn
PubMed Link: 27146902
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_878.pdf
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: S240N
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: S240N
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Transactivation specificity is conserved among p53 family proteins and depends on a response element sequence code.

Nucleic Acids Research
Ciribilli, Yari Y; Monti, Paola P; Bisio, Alessandra A; Nguyen, H Thien HT; Ethayathulla, Abdul S AS; Ramos, Ana A; Foggetti, Giorgia G; Menichini, Paola P; Menendez, Daniel D; Resnick, Michael A MA; Viadiu, Hector H; Fronza, Gilberto G; Inga, Alberto A
Publication Date: 2013-10

Variant appearance in text: p53: S240N
PubMed Link: 23892287
Variant Present in the following documents:
  • Main text
  • gkt657.pdf
View BVdb publication page