TP53 c.988_989delinsGC ;(p.L330A)

Variant ID: 17-7576857-AG-GC

NM_000546.5(TP53):c.988_989delinsGC;(p.L330A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: L330A
PubMed Link: 32873579
Variant Present in the following documents:
  • Main text
  • 1128.pdf
View BVdb publication page



Wild-type and cancer-related p53 proteins are preferentially degraded by MDM2 as dimers rather than tetramers.

Genes & Development
Katz, Chen C; Low-Calle, Ana Maria AM; Choe, Joshua H JH; Laptenko, Oleg O; Tong, David D; Joseph-Chowdhury, Jazmine-Saskya N JN; Garofalo, Francesca F; Zhu, Yan Y; Friedler, Assaf A; Prives, Carol C
Publication Date: 2018-03-01

Variant appearance in text: p53: L330A
PubMed Link: 29549180
Variant Present in the following documents:
  • Main text
  • 430.pdf
  • supp_gad.304071.117_Supplemental_Material.pdf
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: L330A
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Degradation of phosphorylated p53 by viral protein-ECS E3 ligase complex.

Plos Pathogens
Sato, Yoshitaka Y; Kamura, Takumi T; Shirata, Noriko N; Murata, Takayuki T; Kudoh, Ayumi A; Iwahori, Satoko S; Nakayama, Sanae S; Isomura, Hiroki H; Nishiyama, Yukihiro Y; Tsurumi, Tatsuya T
Publication Date: 2009-07

Variant appearance in text: p53: L330A
PubMed Link: 19649319
Variant Present in the following documents:
  • Main text
  • ppat.1000530.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: Leu330Ala
PubMed Link: 18923936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unfolding, aggregation, and amyloid formation by the tetramerization domain from mutant p53 associated with lung cancer.

Biochemistry
Higashimoto, Yuichiro Y; Asanomi, Yuya Y; Takakusagi, Satoru S; Lewis, Marc S MS; Uosaki, Kohei K; Durell, Stewart R SR; Anderson, Carl W CW; Appella, Ettore E; Sakaguchi, Kazuyasu K
Publication Date: 2006-02-14

Variant appearance in text: p53: L330A
PubMed Link: 16460008
Variant Present in the following documents:
  • Main text
View BVdb publication page