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| Gene | CTNNB1 |
| Variant | D32Y |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | CTNNB1 D32Y lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32Y confers a gain of function on the Ctnnb1 protein as demonstrated by decreased ubiquitination and increased Ctnnb1-dependent transcription (PMID: 15064718, PMID: 10987273). |
| Associated Drug Resistance | |
| Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 D32Y |
| Transcript | NM_001904.4 |
| gDNA | chr3:g.41224606G>T |
| cDNA | c.94G>T |
| Protein | p.D32Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |