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RUNX2 c.1448_1449delinsAT ;(p.L483Y)
Variant ID: 6-45514924-TA-AT
NM_001024630.3(
RUNX2
):c.1448_1449delinsAT;(p.L483Y)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
Mechanism of AMPA receptor activation by partial agonists: disulfide trapping of closed lobe conformations.
The Journal Of Biological Chemistry
Ahmed, Ahmed H AH; Wang, Shu S; Chuang, Huai-Hu HH; Oswald, Robert E RE
Publication Date: 2011-10-07
Variant appearance in text: CCD: L483Y
PubMed Link:
21846932
Variant Present in the following documents:
Main text
View BVdb publication page
Stability of ligand-binding domain dimer assembly controls kainate receptor desensitization.
The Embo Journal
Chaudhry, Charu C; Weston, Matthew C MC; Schuck, Peter P; Rosenmund, Christian C; Mayer, Mark L ML
Publication Date: 2009-05-20
Variant appearance in text: CCD: L483Y
PubMed Link:
19339989
Variant Present in the following documents:
Main text
View BVdb publication page
Crystal structures of the kainate receptor GluR5 ligand binding core dimer with novel GluR5-selective antagonists.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Mayer, Mark L ML; Ghosal, Alokesh A; Dolman, Nigel P NP; Jane, David E DE
Publication Date: 2006-03-15
Variant appearance in text: CCD: L483Y
PubMed Link:
16540562
Variant Present in the following documents:
Main text
View BVdb publication page