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|Gene Variant Descriptions||NOTCH1 P2493fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2493 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2493fs (reported as P2493fs*100) results in constitutive Notch signaling when combined with L1574P in culture (PMID: 17646409), but has not been characterized individually and therefore, its effect on Notch1 protein function is unknown (PubMed, Apr 2020).|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|Molecular Profile||Protein Effect||Treatment Approaches|