TP53 c.812A>C ;(p.E271A)

Variant ID: 17-7577126-T-G

NM_000546.5(TP53):c.812A>C;(p.E271A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight
Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F
Publication Date: 2022-06-08

Variant appearance in text: TP53: 812A>C; Asn271Thr
PubMed Link: 35511434
Variant Present in the following documents:
  • jciinsight-7-155804-s147.xlsx, sheet 2
  • jciinsight-7-155804-s147.xlsx, sheet 4
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: E271A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports
Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T
Publication Date: 2020-10-14

Variant appearance in text: p53: 812A>C
PubMed Link: 33057101
Variant Present in the following documents:
  • 41598_2020_74374_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: TP53: 812A>C; E271A
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM6_ESM.xls, sheet 1
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: 812A>C; Glu271Ala
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s6.xlsx, sheet 2
  • bty518_supplementary_data_s4.xlsx, sheet 8
  • bty518_supplementary_data_s3.xlsx, sheet 9
  • bty518_supplementary_data_s10.xlsx, sheet 2
View BVdb publication page



Epilepsy-associated gene Nedd4-2 mediates neuronal activity and seizure susceptibility through AMPA receptors.

Plos Genetics
Zhu, Jiuhe J; Lee, Kwan Young KY; Jewett, Kathryn A KA; Man, Heng-Ye HY; Chung, Hee Jung HJ; Tsai, Nien-Pei NP
Publication Date: 2017-02

Variant appearance in text: p53: E271A
PubMed Link: 28212375
Variant Present in the following documents:
  • Main text
  • pgen.1006634.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: E271A
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.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: E271A
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: E271A
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Transcriptional dysregulation of the p73L / p63 / p51 / p40 / KET gene in human squamous cell carcinomas: expression of Delta Np73L, a novel dominant-negative isoform, and loss of expression of the potential tumour suppressor p51.

British Journal Of Cancer
Senoo, M M; Tsuchiya, I I; Matsumura, Y Y; Mori, T T; Saito, Y Y; Kato, H H; Okamoto, T T; Habu, S S
Publication Date: 2001-05-04

Variant appearance in text: p53: E271A
PubMed Link: 11336476
Variant Present in the following documents:
  • 84-6691735a.pdf
View BVdb publication page