PIK3CA c.595_597delinsGAG ;(p.S199E)

Variant ID: 3-178919110-TCT-GAG

NM_006218.2(PIK3CA):c.595_597delinsGAG;(p.S199E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Phosphomimetic substitution of heterogeneous nuclear ribonucleoprotein A1 at serine 199 abolishes AKT-dependent internal ribosome entry site-transacting factor (ITAF) function via effects on strand annealing and results in mammalian target of rapamycin complex 1 (mTORC1) inhibitor sensitivity.

The Journal Of Biological Chemistry
Martin, Jheralyn J; Masri, Janine J; Cloninger, Cheri C; Holmes, Brent B; Artinian, Nicholas N; Funk, Alexander A; Ruegg, Teresa T; Anderson, Lauren L; Bashir, Tariq T; Bernath, Andrew A; Lichtenstein, Alan A; Gera, Joseph J
Publication Date: 2011-05-06

Variant appearance in text: PI3K: S199E
PubMed Link: 21454539
Variant Present in the following documents:
  • Main text
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