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RUNX2 c.1147_1148delinsTG ;(p.T383C)
Variant ID: 6-45514623-AC-TG
NM_001024630.3(
RUNX2
):c.1147_1148delinsTG;(p.T383C)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Accessory proteins stabilize the acceptor complex for synaptobrevin, the 1:1 syntaxin/SNAP-25 complex.
Structure (London, England : 1993)
Weninger, Keith K; Bowen, Mark E ME; Choi, Ucheor B UB; Chu, Steven S; Brunger, Axel T AT
Publication Date: 2008-02
Variant appearance in text: CCD: T383C
PubMed Link:
18275821
Variant Present in the following documents:
Main text
View BVdb publication page