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RUNX2 c.1192_1193delinsGC ;(p.F398A)
Variant ID: 6-45514668-TT-GC
NM_001024630.3(
RUNX2
):c.1192_1193delinsGC;(p.F398A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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UCSC Genome Browser
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dbSNP
Publications:
Regulation of glycine receptor diffusion properties and gephyrin interactions by protein kinase C.
The Embo Journal
Specht, Christian G CG; Grünewald, Nora N; Pascual, Olivier O; Rostgaard, Nina N; Schwarz, Günter G; Triller, Antoine A
Publication Date: 2011-08-09
Variant appearance in text: CCD: F398A
PubMed Link:
21829170
Variant Present in the following documents:
Main text
View BVdb publication page
Deciphering the structural framework of glycine receptor anchoring by gephyrin.
The Embo Journal
Kim, Eun Young EY; Schrader, Nils N; Smolinsky, Birthe B; Bedet, Cécile C; Vannier, Christian C; Schwarz, Günter G; Schindelin, Hermann H
Publication Date: 2006-03-22
Variant appearance in text: CCD: F398A
PubMed Link:
16511563
Variant Present in the following documents:
Main text
View BVdb publication page