PIK3CA c.1574A>C ;(p.E525A)

Variant ID: 3-178936032-A-C

NM_006218.2(PIK3CA):c.1574A>C;(p.E525A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Frontiers In Pediatrics
Thouenon, Romane R; Moreno-Corona, Nidia N; Poggi, Lucie L; Durandy, Anne A; Kracker, Sven S
Publication Date: 2021

Variant appearance in text: PI3K: E525A
PubMed Link: 34249806
Variant Present in the following documents:
  • Main text
  • fped-09-652405.pdf
View BVdb publication page



Case Study: Mechanism for Increased Follicular Helper T Cell Development in Activated PI3K Delta Syndrome.

Frontiers In Immunology
Thauland, Timothy J TJ; Pellerin, Laurence L; Ohgami, Robert S RS; Bacchetta, Rosa R; Butte, Manish J MJ
Publication Date: 2019

Variant appearance in text: PI3K: E525A
PubMed Link: 31031754
Variant Present in the following documents:
  • Main text
  • fimmu-10-00753.pdf
View BVdb publication page



Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Blood
Rao, V Koneti VK; Webster, Sharon S; Dalm, Virgil A S H VASH; Šedivá, Anna A; van Hagen, P Martin PM; Holland, Steven S; Rosenzweig, Sergio D SD; Christ, Andreas D AD; Sloth, Birgitte B; Cabanski, Maciej M; Joshi, Aniket D AD; de Buck, Stefan S; Doucet, Julie J; Guerini, Danilo D; Kalis, Christoph C; Pylvaenaeinen, Ilona I; Soldermann, Nicolas N; Kashyap, Anuj A; Uzel, Gulbu G; Lenardo, Michael J MJ; Patel, Dhavalkumar D DD; Lucas, Carrie L CL; Burkhart, Christoph C
Publication Date: 2017-11-23

Variant appearance in text: PI3K: E525A
PubMed Link: 28972011
Variant Present in the following documents:
  • Main text
View BVdb publication page