NOTCH1

notch 1
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Known Variants (dbSNP)
Harmful Beneficial Normal
- - -
Novel Variants
Harmful Beneficial Normal
- - -
Variants by Type Count
Insertions & Deletions 0
Known Variants (dbSNP) 0
With Severity Score 0
Total 0

Known vs. Novel Variants
Known Variants
0
Novel
0

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
0
0
Beneficial
0
0
Normal, Score 0-2
0
0

Gene Details  

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq]

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Pharmaceuticals  
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Drugs in clinical trials
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