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| Gene | CTNNB1 |
| Variant | P44A |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | CTNNB1 P44A does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44A is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by increased Ctnnb1-dependent transcription in a reporter assay (PMID: 18282277). |
| Associated Drug Resistance | |
| Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 P44A |
| Transcript | NM_001904.4 |
| gDNA | chr3:g.41224642C>G |
| cDNA | c.130C>G |
| Protein | p.P44A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047447479.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_047447481.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_024453357.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_024453358.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_047447480.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_006712985.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_047447483.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_006712985 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001904.3 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_017005738.2 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_024453356.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_006712985.2 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001098210.2 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_017005738 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_024453356.2 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_005264886 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001098209.2 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001098209 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_047447477.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001904.4 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_017005738.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001098210.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001904 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| XM_047447478.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001098210 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| NM_001098209.1 | chr3:g.41224642C>G | c.130C>G | p.P44A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|