CTNNB1

catenin (cadherin-associated protein), beta 1, 88kDa
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Known Variants (dbSNP)
Harmful Beneficial Normal
- - 1
Novel Variants
Harmful Beneficial Normal
1 - -
Variants by Type Count
Insertions & Deletions 1
Known Variants (dbSNP) 1
With Severity Score 1
Total 2

Known vs. Novel Variants
Known Variants
1
Novel
1

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
0
1
Beneficial
0
0
Normal, Score 0-2
1
0

Gene Details  

The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.

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

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