TP53 c.746_747delinsTC ;(p.R249I)

Variant ID: 17-7577534-CC-GA

NM_000546.5(TP53):c.746_747delinsTC;(p.R249I)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Single-cell RNA sequencing reveals the effects of chemotherapy on human pancreatic adenocarcinoma and its tumor microenvironment.

Nature Communications
Werba, Gregor G; Weissinger, Daniel D; Kawaler, Emily A EA; Zhao, Ende E; Kalfakakou, Despoina D; Dhara, Surajit S; Wang, Lidong L; Lim, Heather B HB; Oh, Grace G; Jing, Xiaohong X; Beri, Nina N; Khanna, Lauren L; Gonda, Tamas T; Oberstein, Paul P; Hajdu, Cristina C; Loomis, Cynthia C; Heguy, Adriana A; Sherman, Mara H MH; Lund, Amanda W AW; Welling, Theodore H TH; Dolgalev, Igor I; Tsirigos, Aristotelis A; Simeone, Diane M DM
Publication Date: 2023-02-13

Variant appearance in text: TP53: R249I
PubMed Link: 36781852
Variant Present in the following documents:
  • 41467_2023_36296_MOESM4_ESM.pdf
View BVdb publication page



A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: TP53: R249I
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



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: R249I
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc5.xlsx, sheet 1
View BVdb publication page



Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications
Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M
Publication Date: 2022-07-23

Variant appearance in text: TP53: R249I
PubMed Link: 35871175
Variant Present in the following documents:
  • 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic characterization of 2002 human cancers reveals pan-cancer molecular subtypes and associated pathways.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Chandrashekar, Darshan S DS; Varambally, Sooryanarayana S; Creighton, Chad J CJ
Publication Date: 2022-05-13

Variant appearance in text: p53: R249I
PubMed Link: 35562349
Variant Present in the following documents:
  • 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine
Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H
Publication Date: 2021-12

Variant appearance in text: TP53: R249I
PubMed Link: 34779146
Variant Present in the following documents:
  • CAM4-10-8581-s002.xlsx, sheet 1
View BVdb publication page



TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine
Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H
Publication Date: 2021-12

Variant appearance in text: TP53: R249I
PubMed Link: 34779146
Variant Present in the following documents:
  • CAM4-10-8581-s002.xlsx, sheet 1
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: Arg249Ile
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



p53 mutants cooperate with HIF-1 in transcriptional regulation of extracellular matrix components to promote tumor progression.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Amelio, Ivano I; Mancini, Mara M; Petrova, Varvara V; Cairns, Rob A RA; Vikhreva, Polina P; Nicolai, Sara S; Marini, Alberto A; Antonov, Alexey A AA; Le Quesne, John J; Baena Acevedo, Juvenal D JD; Dudek, Kate K; Sozzi, Gabriella G; Pastorino, Ugo U; Knight, Richard A RA; Mak, Tak W TW; Melino, Gerry G
Publication Date: 2018-11-13

Variant appearance in text: p53: R249I
PubMed Link: 30381462
Variant Present in the following documents:
  • pnas.1808314115.sapp.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: R249I
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: R249I
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Immortalizing the complexity of cancer metastasis: genetic features of lethal metastatic pancreatic cancer obtained from rapid autopsy.

Cancer Biology & Therapy
Embuscado, Erlinda E EE; Laheru, Daniel D; Ricci, Francesca F; Yun, Ki Jung KJ; de Boom Witzel, Sten S; Seigel, Allison A; Flickinger, Katie K; Hidalgo, Manuel M; Bova, G Steven GS; Iacobuzio-Donahue, Christine A CA
Publication Date: 2005-05

Variant appearance in text: TP53: R249I
PubMed Link: 15846069
Variant Present in the following documents:
  • Main text
View BVdb publication page