RUNX2 c.1495_1496delinsGC ;(p.S499A)

Variant ID: 6-45514971-AG-GC

NM_001024630.3(RUNX2):c.1495_1496delinsGC;(p.S499A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures.

Neurobiology Of Disease
Bernard, Paul B PB; Castano, Anna M AM; O'Leary, Heather H; Simpson, Kameron K; Browning, Michael D MD; Benke, Tim A TA
Publication Date: 2013-11

Variant appearance in text: CCD: S499A
PubMed Link: 23831253
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dephosphorylation-induced ubiquitination and degradation of FMRP in dendrites: a role in immediate early mGluR-stimulated translation.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Nalavadi, Vijayalaxmi C VC; Muddashetty, Ravi S RS; Gross, Christina C; Bassell, Gary J GJ
Publication Date: 2012-02-22

Variant appearance in text: CCD: S499A
PubMed Link: 22357842
Variant Present in the following documents:
  • Main text
View BVdb publication page



FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Narayanan, Usha U; Nalavadi, Vijayalaxmi V; Nakamoto, Mika M; Pallas, David C DC; Ceman, Stephanie S; Bassell, Gary J GJ; Warren, Stephen T ST
Publication Date: 2007-12-26

Variant appearance in text: CCD: S499A
PubMed Link: 18160642
Variant Present in the following documents:
  • Main text
View BVdb publication page