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Gene | CTNNB1 |
Variant | G34E |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 G34E lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34E is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by resistance to degradation, leading to increased pathway activation in culture (PMID: 18519687). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 G34E |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224613G>A |
cDNA | c.101G>A |
Protein | p.G34E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |