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Gene | CTNNB1 |
Variant | G48D |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 G48D does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G48D is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11559529). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 G48D |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224655G>A |
cDNA | c.143G>A |
Protein | p.G48D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264886 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224655G>A | c.143G>A | p.G48D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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