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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_001098210.2 |
gDNA | chr3:g.41224613G>A |
cDNA | c.101G>A |
Protein | p.G34E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024453356.2 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224613G>A | c.101G>A | p.G34E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 G34E | gain of function - predicted | CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor |