TP53 c.748C>A ;(p.P250T)

Variant ID: 17-7577533-G-T

NM_000546.5(TP53):c.748C>A;(p.P250T)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: 748C>A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: TP53: 748C>A; P250T
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Hyperhaploid plasma cell myeloma characterized by poor outcome and monosomy 17 with frequently co-occurring TP53 mutations.

Blood Cancer Journal
Peterson, Jess F JF; Rowsey, Ross A RA; Marcou, Cherisse A CA; Pearce, Kathryn E KE; Williamson, Cynthia M CM; Frederick, Lori A LA; Greipp, Patricia T PT; Ketterling, Rhett P RP; Kumar, Shaji S; Viswanatha, David S DS; Polley, Mei-Yin MY; Fink, James M JM; Reichard, Kaaren K KK; Van Dyke, Daniel L DL; Baughn, Linda B LB
Publication Date: 2019-02-19

Variant appearance in text: TP53: Pro250Thr
PubMed Link: 30783078
Variant Present in the following documents:
  • Main text
  • 41408_2019_Article_182.pdf
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: 748C>A; Pro250Thr
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page



Wild-type p53 upregulates an early onset breast cancer-associated gene GAS7 to suppress metastasis via GAS7-CYFIP1-mediated signaling pathway.

Oncogene
Chang, Jer-Wei JW; Kuo, Wen-Hung WH; Lin, Chiao-Mei CM; Chen, Wen-Ling WL; Chan, Shih-Hsuan SH; Chiu, Meng-Fan MF; Chang, I-Shou IS; Jiang, Shih-Sheng SS; Tsai, Fang-Yu FY; Chen, Chung-Hsing CH; Huang, Pei-Hsin PH; Chang, King-Jen KJ; Lin, Kai-Ti KT; Lin, Sheng-Chieh SC; Wang, Ming-Yang MY; Uen, Yih-Huei YH; Tu, Chi-Wen CW; Hou, Ming-Feng MF; Tsai, Shih-Feng SF; Shen, Chen-Yang CY; Tung, Shiao-Lin SL; Wang, Lu-Hai LH
Publication Date: 2018-07

Variant appearance in text: TP53: P250T
PubMed Link: 29706651
Variant Present in the following documents:
  • 41388_2018_253_MOESM1_ESM.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: P250T
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: P250T
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: P250T
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TP53 and PIK3CA gene mutations in adenocarcinoma, squamous cell carcinoma and high-grade intraepithelial neoplasia of the cervix.

Journal Of Translational Medicine
Tornesello, Maria Lina ML; Annunziata, Clorinda C; Buonaguro, Luigi L; Losito, Simona S; Greggi, Stefano S; Buonaguro, Franco M FM
Publication Date: 2014-09-16

Variant appearance in text: TP53: P250T
PubMed Link: 25220666
Variant Present in the following documents:
  • Main text
  • 12967_2014_Article_255.pdf
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: P250T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Targeting the p53 Pathway in Ewing Sarcoma.

Sarcoma
Neilsen, Paul M PM; Pishas, Kathleen I KI; Callen, David F DF; Thomas, David M DM
Publication Date: 2011

Variant appearance in text: TP53: P250T
PubMed Link: 21197471
Variant Present in the following documents:
  • Main text
  • SRCM2011-746939.pdf
View BVdb publication page