TP53 c.988C>T ;(p.L330F)

Variant ID: 17-7576858-G-A

NM_000546.5(TP53):c.988C>T;(p.L330F)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Spatial transcriptomics reveal topological immune landscapes of Asian head and neck angiosarcoma.

Communications Biology
Loh, Jui Wan JW; Lee, Jing Yi JY; Lim, Abner Herbert AH; Guan, Peiyong P; Lim, Boon Yee BY; Kannan, Bavani B; Lee, Elizabeth Chun Yong ECY; Gu, Ning Xin NX; Ko, Tun Kiat TK; Ng, Cedric Chuan-Young CC; Lim, Jeffrey Chun Tatt JCT; Yeong, Joe J; Lim, Jing Quan JQ; Ong, Choon Kiat CK; Teh, Bin Tean BT; Chan, Jason Yongsheng JY
Publication Date: 2023-04-27

Variant appearance in text: TP53: 988C>T; L330F
PubMed Link: 37106027
Variant Present in the following documents:
  • 42003_2023_4856_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: TP53: 988C>T; Leu330Phe
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, 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: 988C>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Human Papillomavirus Type 16 L2 Gene Sequence Variation Analysis in Indonesian Cervical Cancer Specimens.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Putra, Syandrez Prima SP; Putra, Andani Eka AE; Astuti, Indwiani I; Asmara, Widya W
Publication Date: 2022-06-01

Variant appearance in text: p53: L330F
PubMed Link: 35763643
Variant Present in the following documents:
  • Main text
  • APJCP-23-2009.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: TP53: L330F
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_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: L330F
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Oncotarget
Wilson, George D GD; Johnson, Matthew D MD; Ahmed, Samreen S; Cardenas, Paola Yumpo PY; Grills, Inga S IS; Thibodeau, Bryan J BJ
Publication Date: 2018-05-25

Variant appearance in text: TP53: 988C>T
PubMed Link: 29899834
Variant Present in the following documents:
  • oncotarget-09-25957-s003.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: L330F
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s008.xlsx, sheet 1
View BVdb publication page



Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications
Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ
Publication Date: 2016-08-25

Variant appearance in text: TP53: L330F
PubMed Link: 27558455
Variant Present in the following documents:
  • ncomms12493-s14.xlsx, 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: L330F
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia.

Annals Of Hematology
Fujiwara, Tohru T; Fukuhara, Noriko N; Funayama, Ryo R; Nariai, Naoki N; Kamata, Mayumi M; Nagashima, Takeshi T; Kojima, Kaname K; Onishi, Yasushi Y; Sasahara, Yoji Y; Ishizawa, Kenichi K; Nagasaki, Masao M; Nakayama, Keiko K; Harigae, Hideo H
Publication Date: 2014-09

Variant appearance in text: TP53: 988C>T
PubMed Link: 24782121
Variant Present in the following documents:
  • 277_2014_Article_2090.pdf
View BVdb publication page



Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Genomic Medicine
Merritt, Joshua J; Roberts, Kim G KG; Butz, James A JA; Edwards, Jeremy S JS
Publication Date: 2007

Variant appearance in text: p53: Leu330Phe
PubMed Link: 18923936
Variant Present in the following documents:
  • Main text
View BVdb publication page