PTEN c.368A>C ;(p.H123P)

Variant ID: 10-89692884-A-C

NM_000314.4(PTEN):c.368A>C;(p.H123P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Cancers
Boyd, David C DC; Zboril, Emily K EK; Olex, Amy L AL; Leftwich, Tess J TJ; Hairr, Nicole S NS; Byers, Holly A HA; Valentine, Aaron D AD; Altman, Julia E JE; Alzubi, Mohammad A MA; Grible, Jacqueline M JM; Turner, Scott A SA; Ferreira-Gonzalez, Andrea A; Dozmorov, Mikhail G MG; Harrell, J Chuck JC
Publication Date: 2023-03-03

Variant appearance in text: PTEN: 368A>C
PubMed Link: 36900375
Variant Present in the following documents:
  • cancers-15-01582.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: H123P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.

Nature Genetics
De Keersmaecker, Kim K; Atak, Zeynep Kalender ZK; Li, Ning N; Vicente, Carmen C; Patchett, Stephanie S; Girardi, Tiziana T; Gianfelici, Valentina V; Geerdens, Ellen E; Clappier, Emmanuelle E; Porcu, Michaël M; Lahortiga, Idoya I; Lucà, Rossella R; Yan, Jiekun J; Hulselmans, Gert G; Vranckx, Hilde H; Vandepoel, Roel R; Sweron, Bram B; Jacobs, Kris K; Mentens, Nicole N; Wlodarska, Iwona I; Cauwelier, Barbara B; Cloos, Jacqueline J; Soulier, Jean J; Uyttebroeck, Anne A; Bagni, Claudia C; Hassan, Bassem A BA; Vandenberghe, Peter P; Johnson, Arlen W AW; Aerts, Stein S; Cools, Jan J
Publication Date: 2013-02

Variant appearance in text: PTEN: His123Pro
PubMed Link: 23263491
Variant Present in the following documents:
  • Main text
View BVdb publication page