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Gene | CTNNB1 |
Variant | D32G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 D32G lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32G confers a gain of function on the Ctnnb1 protein as demonstrated by decreased ubiquitination and increased Ctnnb1-dependent transcription (PMID: 15064718, PMID: 22298898). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 D32G |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224607A>G |
cDNA | c.95A>G |
Protein | p.D32G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |