PTEN c.1195C>T ;(p.Q399*)

Variant ID: 10-89725212-C-T

NM_000314.4(PTEN):c.1195C>T;(p.Q399*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: PTEN: Q399*
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
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: 1195C>T; Q399*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Disruption of epithelial architecture caused by loss of PTEN or by oncogenic mutant p110α/PIK3CA but not by HER2 or mutant AKT1.

Oncogene
Berglund, F M FM; Weerasinghe, N R NR; Davidson, L L; Lim, J C JC; Eickholt, B J BJ; Leslie, N R NR
Publication Date: 2013-09-12

Variant appearance in text: PTEN: Q399X
PubMed Link: 23085752
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retinal degeneration triggered by inactivation of PTEN in the retinal pigment epithelium.

Genes & Development
Kim, Jin Woo JW; Kang, Kyung Hwa KH; Burrola, Patrick P; Mak, Tak W TW; Lemke, Greg G
Publication Date: 2008-11-15

Variant appearance in text: PTEN: Q399X
PubMed Link: 18997061
Variant Present in the following documents:
  • Main text
View BVdb publication page