PTEN c.388_390del ;(p.R130del)

Variant ID: 10-89692901-GGAC-G

NM_000314.4(PTEN):c.388_390del;(p.R130del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: R130del
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



SETD2 mutations in primary central nervous system tumors.

Acta Neuropathologica Communications
Viaene, Angela N AN; Santi, Mariarita M; Rosenbaum, Jason J; Li, Marilyn M MM; Surrey, Lea F LF; Nasrallah, MacLean P MP
Publication Date: 2018-11-12

Variant appearance in text: PTEN: R130del
PubMed Link: 30419952
Variant Present in the following documents:
  • Main text
  • 40478_2018_Article_623.pdf
View BVdb publication page



PTEN dephosphorylates AKT to prevent the expression of GLUT1 on plasmamembrane and to limit glucose consumption in cancer cells.

Oncotarget
Phadngam, Suratchanee S; Castiglioni, Andrea A; Ferraresi, Alessandra A; Morani, Federica F; Follo, Carlo C; Isidoro, Ciro C
Publication Date: 2016-12-20

Variant appearance in text: PTEN: R130del
PubMed Link: 27829222
Variant Present in the following documents:
  • Main text
  • oncotarget-07-84999.pdf
View BVdb publication page