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Gene | NOTCH1 |
Variant | E450K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | NOTCH1 E450K lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). E450K has been identified in the scientific literature (PMID: 24292195, PMID: 25303977, PMID: 25633867), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2021). |
Associated Drug Resistance |
Transcript | NM_017617.4 |
gDNA | chr9:g.136517845C>T |
cDNA | c.1348G>A |
Protein | p.E450K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_017617 | chr9:g.136517845C>T | c.1348G>A | p.E450K | RefSeq | GRCh38/hg38 |
NM_017617.4 | chr9:g.136517845C>T | c.1348G>A | p.E450K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
NOTCH1 E450K | unknown |