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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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