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Gene | CTNNB1 |
Variant | S33A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 S33A lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33A confers a gain of function to the Ctnnb1 protein as demonstrated by weak transforming properties and increased cell invasion in culture in one study (PMID: 15829978), and transformation in cell culture and transcriptional activation in a reporter assay in another study (PMID: 12370820). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 S33A |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224609T>G |
cDNA | c.97T>G |
Protein | p.S33A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |