APC

adenomatous polyposis coli
back to Gene Panel Summary
 
Known Variants (dbSNP)
Harmful Beneficial Normal
10 - 40
Novel Variants
Harmful Beneficial Normal
- - -
Variants by Type Count
Insertions & Deletions 1
Known Variants (dbSNP) 50
With Severity Score 2
Total 50

Known vs. Novel Variants
Known Variants
50
Novel
0

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
10
0
Beneficial
0
0
Normal, Score 0-2
40
0

Gene Details  

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq]

research APC on OMIM...
Pharmaceuticals  
FDA approved drugs to treat condition Click on drug names to see more info
None
Drugs in clinical trials
None

www.ionflux.com