PTEN c.761A>G ;(p.K254R)

Variant ID: 10-89717736-A-G

NM_000314.4(PTEN):c.761A>G;(p.K254R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


The antileukemic activity of decitabine upon PML/RARA-negative AML blasts is supported by all-trans retinoic acid: in vitro and in vivo evidence for cooperation.

Blood Cancer Journal
Meier, Ruth R; Greve, Gabriele G; Zimmer, Dennis D; Bresser, Helena H; Berberich, Bettina B; Langova, Ralitsa R; Stomper, Julia J; Rubarth, Anne A; Feuerbach, Lars L; Lipka, Daniel B DB; Hey, Joschka J; Grüning, Björn B; Brors, Benedikt B; Duyster, Justus J; Plass, Christoph C; Becker, Heiko H; Lübbert, Michael M
Publication Date: 2022-08-22

Variant appearance in text: PTEN: 761A>G
PubMed Link: 35995769
Variant Present in the following documents:
  • 41408_2022_715_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The Function of SUMOylation and Its Role in the Development of Cancer Cells under Stress Conditions: A Systematic Review.

Stem Cells International
Zhao, Qi Q; Ma, Ying Y; Li, Zugui Z; Zhang, Kexin K; Zheng, Minying M; Zhang, Shiwu S
Publication Date: 2020

Variant appearance in text: PTEN: K254R
PubMed Link: 33273928
Variant Present in the following documents:
  • Main text
  • SCI2020-8835714.pdf
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The Loss of Nuclear PTEN Increases Tumorigenesis in a Preclinical Mouse Model for Hepatocellular Carcinoma.

Iscience
Kato, Takashi T; Yamada, Tatsuya T; Nakamura, Hideki H; Igarashi, Atsushi A; Anders, Robert A RA; Sesaki, Hiromi H; Iijima, Miho M
Publication Date: 2020-10-23

Variant appearance in text: PTEN: K254R
PubMed Link: 33083717
Variant Present in the following documents:
  • main.pdf
  • mmc1.pdf
View BVdb publication page



Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

The Febs Journal
Wong, Chi Wai CW; Wang, Yubing Y; Liu, Tian T; Li, Lisha L; Cheung, Stanley Kwok Kuen SKK; Or, Penelope Mei-Yu PM; Cheng, Alfred Sze-Lok AS; Choy, Kwong Wai KW; Burbach, Johannes Peter Henri JPH; Feng, Bo B; Chang, Raymond Chuen Chung RCC; Chan, Andrew M AM
Publication Date: 2020-11

Variant appearance in text: PTEN: K254R
PubMed Link: 32150788
Variant Present in the following documents:
  • Main text
  • FEBS-287-4848.pdf
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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: K254R
PubMed Link: 31451538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of Nuclear PTEN Tyrosine Phosphorylation Enhances Glioma Radiation Sensitivity through Attenuated DNA Repair.

Cancer Cell
Ma, Jianhui J; Benitez, Jorge A JA; Li, Jie J; Miki, Shunichiro S; Ponte de Albuquerque, Claudio C; Galatro, Thais T; Orellana, Laura L; Zanca, Ciro C; Reed, Rachel R; Boyer, Antonia A; Koga, Tomoyuki T; Varki, Nissi M NM; Fenton, Tim R TR; Nagahashi Marie, Suely Kazue SK; Lindahl, Erik E; Gahman, Timothy C TC; Shiau, Andrew K AK; Zhou, Huilin H; DeGroot, John J; Sulman, Erik P EP; Cavenee, Webster K WK; Kolodner, Richard D RD; Chen, Clark C CC; Furnari, Frank B FB
Publication Date: 2019-05-13

Variant appearance in text: PTEN: K254R
PubMed Link: 31085179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of Nuclear PTEN Tyrosine Phosphorylation Enhances Glioma Radiation Sensitivity through Attenuated DNA Repair.

Cancer Cell
Ma, Jianhui J; Benitez, Jorge A JA; Li, Jie J; Miki, Shunichiro S; Ponte de Albuquerque, Claudio C; Galatro, Thais T; Orellana, Laura L; Zanca, Ciro C; Reed, Rachel R; Boyer, Antonia A; Koga, Tomoyuki T; Varki, Nissi M NM; Fenton, Tim R TR; Nagahashi Marie, Suely Kazue SK; Lindahl, Erik E; Gahman, Timothy C TC; Shiau, Andrew K AK; Zhou, Huilin H; DeGroot, John J; Sulman, Erik P EP; Cavenee, Webster K WK; Kolodner, Richard D RD; Chen, Clark C CC; Furnari, Frank B FB
Publication Date: 2019-03-18

Variant appearance in text: PTEN: K254R
PubMed Link: 30827889
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PTEN phosphatase functions cooperatively with the Fanconi anemia proteins in DNA crosslink repair.

Scientific Reports
Vuono, Elizabeth A EA; Mukherjee, Ananda A; Vierra, David A DA; Adroved, Morganne M MM; Hodson, Charlotte C; Deans, Andrew J AJ; Howlett, Niall G NG
Publication Date: 2016-11-07

Variant appearance in text: PTEN: K254R
PubMed Link: 27819275
Variant Present in the following documents:
  • Main text
View BVdb publication page



RSUME is implicated in tumorigenesis and metastasis of pancreatic neuroendocrine tumors.

Oncotarget
Wu, Yonghe Y; Tedesco, Lucas L; Lucia, Kristin K; Schlitter, Anna M AM; Garcia, Jose Monteserin JM; Esposito, Irene I; Auernhammer, Christoph J CJ; Theodoropoulou, Marily M; Arzt, Eduardo E; Renner, Ulrich U; Stalla, Günter K GK
Publication Date: 2016-09-06

Variant appearance in text: PTEN: K254R
PubMed Link: 27506944
Variant Present in the following documents:
  • Main text
  • oncotarget-07-57878-s001.pdf
  • oncotarget-07-57878.pdf
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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: K254R
PubMed Link: 26216063
Variant Present in the following documents:
  • Main text
  • srep12600-s1.pdf
View BVdb publication page



PIASxα ligase enhances SUMO1 modification of PTEN protein as a SUMO E3 ligase.

The Journal Of Biological Chemistry
Wang, Weibin W; Chen, Yifan Y; Wang, Shuya S; Hu, Ningguang N; Cao, Zhengyi Z; Wang, Wengong W; Tong, Tanjun T; Zhang, Xiaowei X
Publication Date: 2014-02-07

Variant appearance in text: PTEN: K254R
PubMed Link: 24344134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nuclear PTEN controls DNA repair and sensitivity to genotoxic stress.

Science (New York, N.Y.)
Bassi, C C; Ho, J J; Srikumar, T T; Dowling, R J O RJ; Gorrini, C C; Miller, S J SJ; Mak, T W TW; Neel, B G BG; Raught, B B; Stambolic, V V
Publication Date: 2013-07-26

Variant appearance in text: PTEN: K254R
PubMed Link: 23888040
Variant Present in the following documents:
  • Main text
View BVdb publication page