PTEN c.139_141delinsCAT ;(p.R47H)

Variant ID: 10-89653841-AGG-CAT

NM_000314.4(PTEN):c.139_141delinsCAT;(p.R47H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identifying and analyzing the key genes shared by papillary thyroid carcinoma and Hashimoto's thyroiditis using bioinformatics methods.

Frontiers In Endocrinology
Liu, Ting-Ting TT; Yin, De-Tao DT; Wang, Nan N; Li, Na N; Dong, Gang G; Peng, Meng-Fan MF
Publication Date: 2023

Variant appearance in text: PTEN: Arg47His
PubMed Link: 37324256
Variant Present in the following documents:
  • fendo-14-1140094.pdf
View BVdb publication page



MicroRNAs in Alzheimer's Disease: Function and Potential Applications as Diagnostic Biomarkers.

Frontiers In Molecular Neuroscience
Wei, Wei W; Wang, Zhi-Yong ZY; Ma, Li-Na LN; Zhang, Ting-Ting TT; Cao, Yu Y; Li, Hao H
Publication Date: 2020

Variant appearance in text: PTEN: R47H
PubMed Link: 32973449
Variant Present in the following documents:
  • fnmol-13-00160.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PTEN: R47H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



PTEN activation contributes to neuronal and synaptic engulfment by microglia in tauopathy.

Acta Neuropathologica
Benetatos, Joseph J; Bennett, Rachel E RE; Evans, Harrison T HT; Ellis, Sevannah A SA; Hyman, Bradley T BT; Bodea, Liviu-Gabriel LG; Götz, Jürgen J
Publication Date: 2020-07

Variant appearance in text: PTEN: R47H
PubMed Link: 32236736
Variant Present in the following documents:
  • 401_2020_Article_2151.pdf
View BVdb publication page



The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives.

Brain Sciences
García, Julio-César JC; Bustos, Rosa-Helena RH
Publication Date: 2018-12-13

Variant appearance in text: PTEN: R47H
PubMed Link: 30551598
Variant Present in the following documents:
  • Main text
View BVdb publication page