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|Protein Effect||gain of function|
|Gene Variant Descriptions||NOTCH1 L1593P lies within the HD-N domain of the Notch1 protein (PMID: 16738328). L1593P (reported as L1594P) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|