TP53 c.800_801delinsAT ;(p.R267H)

Variant ID: 17-7577137-CC-AT

NM_000546.5(TP53):c.800_801delinsAT;(p.R267H)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology
Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW
Publication Date: 2022-10-26

Variant appearance in text: TP53: Arg267His
PubMed Link: 36287571
Variant Present in the following documents:
  • PATH-259-81-s011.xlsx, sheet 2
View BVdb publication page



Primary resistance to alectinib in a patient with STRN-ALK-positive non-small cell lung cancer: A case report.

Thoracic Cancer
Sun, Kunyan K; Nie, Ligong L; Nong, Lin L; Cheng, Yuan Y
Publication Date: 2021-06

Variant appearance in text: TP53: Arg267His
PubMed Link: 33960639
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TP53: R267H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Publication Date: 2017-09-15

Variant appearance in text: TP53: R267H
PubMed Link: 28978093
Variant Present in the following documents:
  • oncotarget-08-68026-s002.xlsx, sheet 5
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: R267H
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: R267H
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.

Nature Genetics
Lee, William W; Teckie, Sewit S; Wiesner, Thomas T; Ran, Leili L; Prieto Granada, Carlos N CN; Lin, Mingyan M; Zhu, Sinan S; Cao, Zhen Z; Liang, Yupu Y; Sboner, Andrea A; Tap, William D WD; Fletcher, Jonathan A JA; Huberman, Kety H KH; Qin, Li-Xuan LX; Viale, Agnes A; Singer, Samuel S; Zheng, Deyou D; Berger, Michael F MF; Chen, Yu Y; Antonescu, Cristina R CR; Chi, Ping P
Publication Date: 2014-11

Variant appearance in text: TP53: R267H
PubMed Link: 25240281
Variant Present in the following documents:
  • NIHMS623924-supplement-1.pdf
View BVdb publication page