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|Gene Variant Descriptions||NOTCH1 Q1957* results in a premature truncation of the Notch1 protein at amino acid 1957 of 2555 (UniProt.org). Q1957* has been identified in the scientific literature (PMID: 30770351), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Jun 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|
|NOTCH1 Q1957*||head and neck squamous cell carcinoma||predicted - sensitive||GSK2126458||Preclinical - Cell culture||Actionable||In a preclinical study, a head and neck squamous cell carcinoma cell line harboring NOTCH1 Q1957* demonstrated apoptotic activity and reduced colony growth when treated with GSK2126458 in culture (PMID: 30770351).||30770351|
|Molecular Profile||Protein Effect||Treatment Approaches|