Gene Variant Detail

Gene NOTCH1
Variant E1567K
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions NOTCH1 E1567K lies within the negative regulatory region of the Notch1 protein (PMID: 25104330). E1567K demonstrates signaling activity similar to wild-type Notch1 in an in-vitro reporter assay (PMID: 25104330) and therefore, is predicted to have no effect on Notch1 protein function.
Associated Drug Resistance

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Transcript NM_017617
gDNA chr9:g.136504992C>T
cDNA c.4699G>A
Protein p.E1567K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_017617 chr9:g.136504992C>T c.4699G>A p.E1567K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
NOTCH1 E1567K no effect - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
NOTCH1 E1567K osteosarcoma sensitive MRK-003 Preclinical Actionable In a preclinical study, MRK-003 inhibited Notch1 signaling in a luciferase reporter assay in osteosarcoma cell lines overexpressing NOTCH1 E1567K in culture (PMID: 25104330). 25104330