TP53 c.1049T>C ;(p.L350P)

Variant ID: 17-7573978-A-G

NM_000546.5(TP53):c.1049T>C;(p.L350P)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: TP53: 1049T>C; L350P
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



First results of the EORTC-SPECTA/Arcagen study exploring the genomics of rare cancers in collaboration with the European reference network EURACAN.

Esmo Open
Morfouace, Marie M; Stevovic, Aleksandra A; Vinches, Marie M; Golfinopoulos, Vassilis V; Jin, Dexter X DX; Holmes, Oliver O; Erlich, Rachel R; Fayette, Jerome J; Croce, Sabrina S; Ray-Coquard, Isabelle I; Girard, Nicolas N; Blay, Jean-Yves JY
Publication Date: 2020-12

Variant appearance in text: TP53: Leu350Pro
PubMed Link: 33262201
Variant Present in the following documents:
  • esmoopen-2020-001075supp001.pdf
View BVdb publication page



p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Genes & Development
Gencel-Augusto, Jovanka J; Lozano, Guillermina G
Publication Date: 2020-09-01

Variant appearance in text: p53: L350P
PubMed Link: 32873579
Variant Present in the following documents:
  • Main text
  • 1128.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: TP53: Leu350Pro
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_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: L350P
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Synergistic activation of the NEU4 promoter by p73 and AP2 in colon cancer cells.

Scientific Reports
Cai, Bi-He BH; Wu, Po-Han PH; Chou, Chi-Kan CK; Huang, Hsiang-Chi HC; Chao, Chia-Chun CC; Chung, Hsiao-Yu HY; Lee, Hsueh-Yi HY; Chen, Jang-Yi JY; Kannagi, Reiji R
Publication Date: 2019-01-30

Variant appearance in text: p53: L350P
PubMed Link: 30700826
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37521.pdf
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: TP53: L350P
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy.

Cancer Biology & Therapy
Liu, Qiuli Q; Tong, Dali D; Liu, Gaolei G; Yi, Yuting Y; Xu, Jing J; Yang, Xingxia X; Wang, Linang L; Zhang, Jun J; Ye, Jin J; Zhang, Yao Y; Yuan, Gang G; Wang, Peng P; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Zhang, Dianzheng D; Jiang, Jun J
Publication Date: 2018-08-03

Variant appearance in text: TP53: 1049T>C
PubMed Link: 29580149
Variant Present in the following documents:
  • Main text
  • kcbt-19-08-1451278.pdf
View BVdb publication page



Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes.

Oncotarget
Cedena, M Teresa MT; Rapado, Inmaculada I; Santos-Lozano, Alejandro A; Ayala, Rosa R; Onecha, Esther E; Abaigar, María M; Such, Esperanza E; Ramos, Fernando F; Cervera, José J; Díez-Campelo, María M; Sanz, Guillermo G; Rivas, Jesús Hernández JH; Lucía, Alejandro A; Martínez-López, Joaquin J
Publication Date: 2017-12-05

Variant appearance in text: TP53: 1049T>C; Leu350Pro
PubMed Link: 29291002
Variant Present in the following documents:
  • oncotarget-08-106948-s002.xls, sheet 1
View BVdb publication page



Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Gastroenterology
Cho, Soo Young SY; Park, Jun Won JW; Liu, Yang Y; Park, Young Soo YS; Kim, Ju Hee JH; Yang, Hanna H; Um, Hyejin H; Ko, Woo Ri WR; Lee, Byung Il BI; Kwon, Sun Young SY; Ryu, Seung Wan SW; Kwon, Chae Hwa CH; Park, Do Youn DY; Lee, Jae-Hyuk JH; Lee, Sang Il SI; Song, Kyu Sang KS; Hur, Hoon H; Han, Sang-Uk SU; Chang, Heekyung H; Kim, Su-Jin SJ; Kim, Byung-Sik BS; Yook, Jeong-Hwan JH; Yoo, Moon-Won MW; Kim, Beom-Su BS; Lee, In-Seob IS; Kook, Myeong-Cherl MC; Thiessen, Nina N; He, An A; Stewart, Chip C; Dunford, Andrew A; Kim, Jaegil J; Shih, Juliann J; Saksena, Gordon G; Cherniack, Andrew D AD; Schumacher, Steven S; Weiner, Amaro-Taylor AT; Rosenberg, Mara M; Getz, Gad G; Yang, Eun Gyeong EG; Ryu, Min-Hee MH; Bass, Adam J AJ; Kim, Hark Kyun HK
Publication Date: 2017-08

Variant appearance in text: TP53: 1049T>C; Leu350Pro
PubMed Link: 28522256
Variant Present in the following documents:
  • NIHMS1058936-supplement-Table_S3.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: L350P
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: L350P
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Interaction between transactivation domain of p53 and middle part of TBP-like protein (TLP) is involved in TLP-stimulated and p53-activated transcription from the p21 upstream promoter.

Plos One
Maeda, Ryo R; Suzuki, Hidefumi H; Tanaka, Yuta Y; Tamura, Taka-aki TA
Publication Date: 2014

Variant appearance in text: p53: L350P
PubMed Link: 24594805
Variant Present in the following documents:
  • Main text
  • pone.0090190.pdf
View BVdb publication page