Description
NOTCH1 is one of four known genes encoding the NOTCH family of proteins, a group of receptors involved in the Notch signaling pathway. NOTCH proteins are characterized by N-terminal EGF-like repeats followed by LNR domains which form a complex with ligands to prevent signaling. The Notch signaling pathway is involved in processes related to cell fate specification, differentiation, proliferation, and survival. Activation of Notch has been shown to be correlative with mammary tumorgenesis in mice and increased expression of Notch receptors has been observed in a variety of cancer types including cervical, colon, head and neck, lung, renal, pancreatic, leukemia, and breast cancer. A number of treatment modalities have been explored related to Notch inhibition especially in breast cancer with mixed results.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (8)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 330 | Amplification | transcript_amplification | |
| 135 | D1642H ASP1642HIS | NC_000009.11:g.139399219C>G,ENST00000277541.6:c.4924G>C,NM_017617.4:c.4924G>C,NP_060087.3:p.Asp1642His | missense_variant |
| 601 | Loss-of-function | loss_of_function_variant | |
| 206 | Mutation | protein_altering_variant | |
| 207 | P2514FS PRO2514ARGFS | NC_000009.11:g.139390649_139390650del | frameshift_truncation |
| 136 | R2327W ARG2327TRP | NM_017617.4:c.6979C>T,NP_060087.3:p.Arg2327Trp,NC_000009.11:g.139391212G>A | missense_variant |
| 138 | S2275FS | ENST00000277541.6:c.6821_6822insT,NC_000009.11:g.139391369_139391370insA | plus_1_frameshift_variant |
| 137 | V2444FS VAL2444FS | ENST00000277541.6:c.7330delinsACA | frameshift_variant |