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Gene | CTNNB1 |
Variant | G34V |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 G34V lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34V is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 9671767). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 G34V |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224613G>T |
cDNA | c.101G>T |
Protein | p.G34V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024453358.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224613G>T | c.101G>T | p.G34V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CTNNB1 G34V | lung non-small cell carcinoma | predicted - resistant | Osimertinib | Case Reports/Case Series | Actionable | In a retrospective analysis, activating CTNNB1 mutations including S37F/C (n=5), D32V (n=1), G34V (n=1), and T41I (n=1) were identified in 8 of 100 patients with non-small cell lung cancer at treatment discontinuation of Tagrisso (osimertinib) (PMID: 31839416). | 31839416 |
CTNNB1 G34V | hepatocellular carcinoma | sensitive | WNTinib | Preclinical - Cell culture | Actionable | In a preclinical study, WNTinib inhibited Ezh2 phosphorylation and viability in a hepatocellular carcinoma cell line harboring CTNNB1 G34V in culture (PMID: 37537299). | 37537299 |