Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : email@example.com
|Gene Variant Descriptions||NOTCH1 H2018fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2018 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). H2018fs 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 H2018fs||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 H2018fs demonstrated apoptotic activity and reduced colony growth when treated with GSK2126458 in culture (PMID: 30770351).||30770351|
|Molecular Profile||Protein Effect||Treatment Approaches|