PTEN c.43_44delinsGC ;(p.R15A)

Variant ID: 10-89624269-AG-GC

NM_000314.4(PTEN):c.43_44delinsGC;(p.R15A)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


PH domain-mediated autoinhibition and oncogenic activation of Akt.

Elife
Bae, Hwan H; Viennet, Thibault T; Park, Eunyoung E; Chu, Nam N; Salguero, Antonieta A; Eck, Michael J MJ; Arthanari, Haribabu H; Cole, Philip A PA
Publication Date: 2022-08-15

Variant appearance in text: PTEN: R15A
PubMed Link: 35968932
Variant Present in the following documents:
  • Main text
  • elife-80148.pdf
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Expression of Human PTEN-L in a Yeast Heterologous Model Unveils Specific N-Terminal Motifs Controlling PTEN-L Subcellular Localization and Function.

Cells
Fernández-Acero, Teresa T; Bertalmio, Eleonora E; Luna, Sandra S; Mingo, Janire J; Bravo-Plaza, Ignacio I; Rodríguez-Escudero, Isabel I; Molina, María M; Pulido, Rafael R; Cid, Víctor J VJ
Publication Date: 2019-11-26

Variant appearance in text: PTEN: R15A
PubMed Link: 31779149
Variant Present in the following documents:
  • Main text
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The Impact of Genetic Variants on PTEN Molecular Functions and Cellular Phenotypes.

Cold Spring Harbor Perspectives In Medicine
Hasle, Nicholas N; Matreyek, Kenneth A KA; Fowler, Douglas M DM
Publication Date: 2019-11-01

Variant appearance in text: PTEN: R15A
PubMed Link: 31451538
Variant Present in the following documents:
  • Main text
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Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

American Journal Of Human Genetics
Smith, Iris Nira IN; Thacker, Stetson S; Seyfi, Marilyn M; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2019-05-02

Variant appearance in text: PTEN: Arg15Ala
PubMed Link: 31006514
Variant Present in the following documents:
  • Main text
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A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.

Plos One
Gil, Anabel A; Rodríguez-Escudero, Isabel I; Stumpf, Miriam M; Molina, María M; Cid, Víctor J VJ; Pulido, Rafael R
Publication Date: 2015

Variant appearance in text: PTEN: R15A
PubMed Link: 25875300
Variant Present in the following documents:
  • Main text
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Engineering ePTEN, an enhanced PTEN with increased tumor suppressor activities.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Nguyen, Hoai-Nghia HN; Yang, Jr-Ming JM; Afkari, Yashar Y; Park, Ben Ho BH; Sesaki, Hiromi H; Devreotes, Peter N PN; Iijima, Miho M
Publication Date: 2014-07-01

Variant appearance in text: PTEN: R15A
PubMed Link: 24979808
Variant Present in the following documents:
  • Main text
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Phosphorylation-mediated PTEN conformational closure and deactivation revealed with protein semisynthesis.

Elife
Bolduc, David D; Rahdar, Meghdad M; Tu-Sekine, Becky B; Sivakumaren, Sindhu Carmen SC; Raben, Daniel D; Amzel, L Mario LM; Devreotes, Peter P; Gabelli, Sandra B SB; Cole, Philip P
Publication Date: 2013-07-09

Variant appearance in text: PTEN: R15A
PubMed Link: 23853711
Variant Present in the following documents:
  • Main text
  • elife00691.pdf
View BVdb publication page



Phosphatidylinositol 3-kinase-dependent activation of mammalian protein kinase B/Akt in Saccharomyces cerevisiae, an in vivo model for the functional study of Akt mutations.

The Journal Of Biological Chemistry
Rodríguez-Escudero, Isabel I; Andrés-Pons, Amparo A; Pulido, Rafael R; Molina, María M; Cid, Víctor J VJ
Publication Date: 2009-05-15

Variant appearance in text: PTEN: R15A
PubMed Link: 19307184
Variant Present in the following documents:
  • Main text
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Phosphorylation keeps PTEN phosphatase closed for business.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ross, Alonzo H AH; Gericke, Arne A
Publication Date: 2009-02-03

Variant appearance in text: PTEN: R15A
PubMed Link: 19174524
Variant Present in the following documents:
  • Main text
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A phosphorylation-dependent intramolecular interaction regulates the membrane association and activity of the tumor suppressor PTEN.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rahdar, Meghdad M; Inoue, Takanari T; Meyer, Tobias T; Zhang, Jin J; Vazquez, Francisca F; Devreotes, Peter N PN
Publication Date: 2009-01-13

Variant appearance in text: PTEN: R15A
PubMed Link: 19114656
Variant Present in the following documents:
  • Main text
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Nuclear localization of PTEN by a Ran-dependent mechanism enhances apoptosis: Involvement of an N-terminal nuclear localization domain and multiple nuclear exclusion motifs.

Molecular Biology Of The Cell
Gil, Anabel A; Andrés-Pons, Amparo A; Fernández, Elena E; Valiente, Miguel M; Torres, Josema J; Cervera, Javier J; Pulido, Rafael R
Publication Date: 2006-09

Variant appearance in text: PTEN: R15A
PubMed Link: 16807353
Variant Present in the following documents:
  • Main text
View BVdb publication page