PTEN c.125T>G ;(p.L42R)

Variant ID: 10-89653827-T-G

NM_000314.4(PTEN):c.125T>G;(p.L42R)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Bortezomib abrogates temozolomide-induced autophagic flux through an ATG5 dependent pathway.

Frontiers In Cell And Developmental Biology
Rahman, Mohummad Aminur MA; Engelsen, Agnete S T AST; Sarowar, Shahin S; Bindesbøll, Christian C; Birkeland, Even E; Goplen, Dorota D; Lotsberg, Maria L ML; Knappskog, Stian S; Simonsen, Anne A; Chekenya, Martha M
Publication Date: 2022

Variant appearance in text: PTEN: L42R
PubMed Link: 36619857
Variant Present in the following documents:
  • Main text
  • fcell-10-1022191.pdf
  • DataSheet2.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: PTEN: 125T>G; L42R
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Mechanism of activation and the rewired network: New drug design concepts.

Medicinal Research Reviews
Nussinov, Ruth R; Zhang, Mingzhen M; Maloney, Ryan R; Tsai, Chung-Jung CJ; Yavuz, Bengi Ruken BR; Tuncbag, Nurcan N; Jang, Hyunbum H
Publication Date: 2022-03

Variant appearance in text: PTEN: L42R
PubMed Link: 34693559
Variant Present in the following documents:
  • Main text
  • MED-42-770.pdf
View BVdb publication page



Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.

Genome Medicine
Matreyek, Kenneth A KA; Stephany, Jason J JJ; Ahler, Ethan E; Fowler, Douglas M DM
Publication Date: 2021-10-14

Variant appearance in text: PTEN: Leu42Arg
PubMed Link: 34649609
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_984.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: PTEN: L42R
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Inhibition of HSP90 as a Strategy to Radiosensitize Glioblastoma: Targeting the DNA Damage Response and Beyond.

Frontiers In Oncology
Orth, Michael M; Albrecht, Valerie V; Seidl, Karin K; Kinzel, Linda L; Unger, Kristian K; Hess, Julia J; Kreutzer, Lisa L; Sun, Na N; Stegen, Benjamin B; Nieto, Alexander A; Maas, Jessica J; Winssinger, Nicolas N; Friedl, Anna A AA; Walch, Axel K AK; Belka, Claus C; Zitzelsberger, Horst H; Niyazi, Maximilian M; Lauber, Kirsten K
Publication Date: 2021

Variant appearance in text: PTEN: L42R
PubMed Link: 33816244
Variant Present in the following documents:
  • Main text
  • fonc-11-612354.pdf
View BVdb publication page



Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Moukarzel, Lea A LA; Da Cruz Paula, Arnaud A; Ferrando, Lorenzo L; Hoang, Timothy T; Sebastiao, Ana Paula Martins APM; Pareja, Fresia F; Park, Kay J KJ; Jungbluth, Achim A AA; Capella, Gabriel G; Pineda, Marta M; Levin, Jeffrey D JD; Abu-Rustum, Nadeem R NR; Ellenson, Lora H LH; Bel, August Vidal AV; Reis-Filho, Jorge S JS; Matias-Guiu, Xavier X; Cadoo, Karen K; Stadler, Zsofia K ZK; Weigelt, Britta B
Publication Date: 2021-05

Variant appearance in text: PTEN: L42R
PubMed Link: 33328602
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Suitability of Glioblastoma Cell Lines as Models for Primary Glioblastoma Cell Metabolism.

Cancers
Arthurs, Anya L AL; Keating, Damien J DJ; Stringer, Brett W BW; Conn, Simon J SJ
Publication Date: 2020-12-11

Variant appearance in text: PTEN: Leu42Arg
PubMed Link: 33322454
Variant Present in the following documents:
  • cancers-12-03722-s001.pdf
View BVdb publication page



Phosphorylation and Driver Mutations in PI3Kα and PTEN Autoinhibition.

Molecular Cancer Research : Mcr
Nussinov, Ruth R; Zhang, Mingzhen M; Tsai, Chung-Jung CJ; Jang, Hyunbum H
Publication Date: 2021-04

Variant appearance in text: PTEN: L42R
PubMed Link: 33288731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PTEN: L42R
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



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: L42R
PubMed Link: 31451538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correction of PTEN mutations in glioblastoma cell lines via AAV-mediated gene editing.

Plos One
Hill, Victoria K VK; Kim, Jung-Sik JS; James, C David CD; Waldman, Todd T
Publication Date: 2017

Variant appearance in text: PTEN: 125T>G
PubMed Link: 28464039
Variant Present in the following documents:
  • Main text
  • pone.0176683.pdf
View BVdb publication page



PTEN status is a crucial determinant of the functional outcome of combined MEK and mTOR inhibition in cancer.

Scientific Reports
Milella, Michele M; Falcone, Italia I; Conciatori, Fabiana F; Matteoni, Silvia S; Sacconi, Andrea A; De Luca, Teresa T; Bazzichetto, Chiara C; Corbo, Vincenzo V; Simbolo, Michele M; Sperduti, Isabella I; Benfante, Antonina A; Del Curatolo, Anais A; Cesta Incani, Ursula U; Malusa, Federico F; Eramo, Adriana A; Sette, Giovanni G; Scarpa, Aldo A; Konopleva, Marina M; Andreeff, Michael M; McCubrey, James Andrew JA; Blandino, Giovanni G; Todaro, Matilde M; Stassi, Giorgio G; De Maria, Ruggero R; Cognetti, Francesco F; Del Bufalo, Donatella D; Ciuffreda, Ludovica L
Publication Date: 2017-02-21

Variant appearance in text: PTEN: Leu42Arg
PubMed Link: 28220839
Variant Present in the following documents:
  • Main text
  • srep43013.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PTEN: 125T>G; L42R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Oncotarget
Patil, Vikas V; Pal, Jagriti J; Somasundaram, Kumaravel K
Publication Date: 2015-12-22

Variant appearance in text: PTEN: 125T>G; L42R
PubMed Link: 26496030
Variant Present in the following documents:
  • oncotarget-06-43452-s003.xlsx, sheet 1
View BVdb publication page



Opening the conformation is a master switch for the dual localization and phosphatase activity of PTEN.

Scientific Reports
Nguyen, Hoai-Nghia HN; Yang, Jr-Ming JM; Miyamoto, Takafumi T; Itoh, Kie K; Rho, Elmer E; Zhang, Qiang Q; Inoue, Takanari T; Devreotes, Peter N PN; Sesaki, Hiromi H; Iijima, Miho M
Publication Date: 2015-07-28

Variant appearance in text: PTEN: L42R
PubMed Link: 26216063
Variant Present in the following documents:
  • Main text
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: PTEN: L42R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Nuclear translocation of fibroblast growth factor-2 (FGF2) is regulated by Karyopherin-β2 and Ran GTPase in human glioblastoma cells.

Oncotarget
Wang, Feng F; Yang, Lijun L; Shi, Lin L; Li, Qian Q; Zhang, Gengshen G; Wu, Jianliang J; Zheng, Jun J; Jiao, Baohua B
Publication Date: 2015-08-28

Variant appearance in text: PTEN: L42R
PubMed Link: 26056081
Variant Present in the following documents:
  • Main text
  • oncotarget-06-21468.pdf
View BVdb publication page



Engineering PTEN function: membrane association and activity.

Methods (San Diego, Calif.)
Yang, Jr-Ming JM; Nguyen, Hoai-Nghia HN; Sesaki, Hiromi H; Devreotes, Peter N PN; Iijima, Miho M
Publication Date: 2015-05

Variant appearance in text: PTEN: L42R
PubMed Link: 25448479
Variant Present in the following documents:
  • Main text
View BVdb publication page



A new class of cancer-associated PTEN mutations defined by membrane translocation defects.

Oncogene
Nguyen, H-N HN; Yang, J-M JM; Rahdar, M M; Keniry, M M; Swaney, K F KF; Parsons, R R; Park, B H BH; Sesaki, H H; Devreotes, P N PN; Iijima, M M
Publication Date: 2015-07

Variant appearance in text: PTEN: L42R
PubMed Link: 25263454
Variant Present in the following documents:
  • Main text
  • NIHMS619140-supplement-2.pdf
  • nihms619140.pdf
View BVdb publication page



CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: PTEN: L42R
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 3
  • pone.0077945.s001.xls, sheet 2
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: L42R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Nonredundant functions for Akt isoforms in astrocyte growth and gliomagenesis in an orthotopic transplantation model.

Cancer Research
Endersby, Raelene R; Zhu, Xiaoyan X; Hay, Nissim N; Ellison, David W DW; Baker, Suzanne J SJ
Publication Date: 2011-06-15

Variant appearance in text: PTEN: L42R
PubMed Link: 21507933
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protean PTEN: form and function.

American Journal Of Human Genetics
Waite, Kristin A KA; Eng, Charis C
Publication Date: 2002-04

Variant appearance in text: PTEN: L42R
PubMed Link: 11875759
Variant Present in the following documents:
  • Main text
View BVdb publication page