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|Gene Variant Descriptions||NOTCH1 V2443fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2443 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). V2443fs has not been characterized individually, however, cells harboring both V2443fs (reported as V2443fs*34) and L1593P demonstrated constitutive Notch signaling in culture (PMID: 17646409) and therefore, the effect of V2443fs on Notch1 protein function is unknown.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|