PTEN c.1160C>T ;(p.P387L)

Variant ID: 10-89725177-C-T

NM_000314.4(PTEN):c.1160C>T;(p.P387L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: PTEN: 1160C>T; Pro387Leu
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology
Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T
Publication Date: 2022-07-14

Variant appearance in text: MMAC1: P387L
PubMed Link: 35836176
Variant Present in the following documents:
  • 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Non-malignant respiratory epithelial cells preferentially proliferate from resected non-small cell lung cancer specimens cultured under conditionally reprogrammed conditions.

Oncotarget
Gao, Boning B; Huang, Chunxian C; Kernstine, Kemp K; Pelekanou, Vasiliki V; Kluger, Yuval Y; Jiang, Tingting T; Peters-Hall, Jennifer R JR; Coquelin, Melissa M; Girard, Luc L; Zhang, Wei W; Huffman, Kenneth K; Oliver, Dwight D; Kinose, Fumi F; Haura, Eric E; Teer, Jamie K JK; Rix, Uwe U; Le, Anh T AT; Aisner, Dara L DL; Varella-Garcia, Marileila M; Doebele, Robert C RC; Covington, Kyle R KR; Hampton, Oliver A OA; Doddapaneni, Harsha V HV; Jayaseelan, Joy C JC; Hu, Jianhong J; Wheeler, David A DA; Shay, Jerry W JW; Rimm, David L DL; Gazdar, Adi A; Minna, John D JD
Publication Date: 2017-02-14

Variant appearance in text: PTEN: P387L
PubMed Link: 28052041
Variant Present in the following documents:
  • Main text
  • oncotarget-08-11114.pdf
View BVdb publication page