TP53 c.227C>T ;(p.A76V)

Variant ID: 17-7579460-G-A

NM_000546.5(TP53):c.227C>T;(p.A76V)

This variant was identified in 14 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: 227C>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: TP53: Ala76Val
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
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: A76V
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
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: A76V
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM4_ESM.xlsx, sheet 1
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: 227C>T; Ala76Val
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: A76V
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nature Communications
Nong, Jingying J; Gong, Yuhua Y; Guan, Yanfang Y; Yi, Xin X; Yi, Yuting Y; Chang, Lianpeng L; Yang, Ling L; Lv, Jialin J; Guo, Zhirong Z; Jia, Hongyan H; Chu, Yuxing Y; Liu, Tao T; Chen, Ming M; Byers, Lauren L; Roarty, Emily E; Lam, Vincent K VK; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I; Heymach, John V JV; Glisson, Bonnie B; Liao, Zhongxing Z; Lee, J Jack JJ; Futreal, P Andrew PA; Zhang, Shucai S; Xia, Xuefeng X; Zhang, Jianjun J; Wang, Jinghui J
Publication Date: 2018-08-06

Variant appearance in text: TP53: 227C>T
PubMed Link: 30082701
Variant Present in the following documents:
  • 41467_2018_5327_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: A76V
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s007.xlsx, sheet 2
  • pone.0189881.s007.xlsx, sheet 3
  • pone.0189881.s007.xlsx, sheet 1
  • pone.0189881.s007.xlsx, sheet 4
View BVdb publication page



Tailored first-line and second-line CDK4-targeting treatment combinations in mouse models of pancreatic cancer.

Gut
Chou, Angela A; Froio, Danielle D; Nagrial, Adnan M AM; Parkin, Ashleigh A; Murphy, Kendelle J KJ; Chin, Venessa T VT; Wohl, Dalia D; Steinmann, Angela A; Stark, Rhys R; Drury, Alison A; Walters, Stacey N SN; Vennin, Claire C; Burgess, Andrew A; Pinese, Mark M; Chantrill, Lorraine A LA; Cowley, Mark J MJ; Molloy, Timothy J TJ; , ; Waddell, Nicola N; Johns, Amber A; Grimmond, Sean M SM; Chang, David K DK; Biankin, Andrew V AV; Sansom, Owen J OJ; Morton, Jennifer P JP; Grey, Shane T ST; Cox, Thomas R TR; Turchini, John J; Samra, Jaswinder J; Clarke, Stephen J SJ; Timpson, Paul P; Gill, Anthony J AJ; Pajic, Marina M
Publication Date: 2018-12

Variant appearance in text: TP53: 227C>T
PubMed Link: 29080858
Variant Present in the following documents:
  • gutjnl-2017-315144supp002.pdf
View BVdb publication page



HOXA7, HOXA9, and HOXA10 are differentially expressed in clival and sacral chordomas.

Scientific Reports
Jäger, Daniela D; Barth, Thomas F E TFE; Brüderlein, Silke S; Scheuerle, Angelika A; Rinner, Beate B; von Witzleben, Adrian A; Lechel, André A; Meyer, Patrick P; Mayer-Steinacker, Regine R; Baer, Alexandra von AV; Schultheiss, Markus M; Wirtz, Christian R CR; Möller, Peter P; Mellert, Kevin K
Publication Date: 2017-05-17

Variant appearance in text: TP53: A76V
PubMed Link: 28515451
Variant Present in the following documents:
  • Main text
  • 41598_2017_2174_MOESM2_ESM.pdf
  • 41598_2017_Article_2174.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: A76V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.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: A76V
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Human Molecular Genetics
Taylor, Claire F CF; Platt, Fiona M FM; Hurst, Carolyn D CD; Thygesen, Helene H HH; Knowles, Margaret A MA
Publication Date: 2014-04-15

Variant appearance in text: TP53: A76V
PubMed Link: 24270882
Variant Present in the following documents:
  • supp_ddt589_ddt589supp_table1.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: A76V
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page