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RUNX2 c.280C>G ;(p.R94G)
Variant ID: 6-45390551-C-G
NM_001024630.3(
RUNX2
):c.280C>G;(p.R94G)
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:
3-Sulfinopropionyl-coenzyme A (3SP-CoA) desulfinase from Advenella mimigardefordensis DPN7(T): crystal structure and function of a desulfinase with an acyl-CoA dehydrogenase fold.
Acta Crystallographica. Section D, Biological Crystallography
Schürmann, Marc M; Meijers, Rob R; Schneider, Thomas R TR; Steinbüchel, Alexander A; Cianci, Michele M
Publication Date: 2015-06
Variant appearance in text: CCD: Arg94Gly
PubMed Link:
26057676
Variant Present in the following documents:
Main text
View BVdb publication page