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Gene CTNNB1
Variant K292E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 K292E lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). K292E has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 K292E

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Transcript NM_001098210.2
gDNA chr3:g.41225799A>G
cDNA c.874A>G
Protein p.K292E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006712985.2 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41225799A>G c.874A>G p.K292E RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CTNNB1 mutant endometrial cancer predicted - sensitive Temsirolimus Phase II Actionable In a retrospective study of a Phase II trial, Torisel (temsirolimus) treatment resulted in an increased progression-free survival (HR 0.46) but not response rate (response difference 0.00) in advanced endometrial cancer patients harboring CTNNB1 mutations (PMID: 27016228). 27016228
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
CTNNB1 mutant hepatocellular carcinoma predicted - sensitive WNTinib Preclinical - Cell culture Actionable In a preclinical study, WNTinib inhibited Ezh2 phosphorylation and viability in a hepatocellular carcinoma cell line harboring a deletion of CTNNB1 exons in culture (PMID: 37537299). 37537299
CTNNB1 mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
CTNNB1 mutant colorectal cancer sensitive BC21 Preclinical Actionable In a preclinical study, BC21 inhibited growth and viability of a colorectal cancer cell line with a CTNNB1 mutation and increased beta-catenin expression in culture (PMID: 22224445). 22224445
CTNNB1 mutant hepatocellular carcinoma sensitive PMED-1 Preclinical Actionable In a preclinical study, PMED-1 decreased Wnt expression and decreased proliferation of hepatocellular carcinoma cells with Ctnnb1 mutations (PMID: 24819961). 24819961
CTNNB1 mutant endometrial cancer predicted - sensitive Cabozantinib Case Reports/Case Series Actionable In a Phase II (NCI9322/PHL86) trial, Cometriq (Cabometyx, cabozantinib) treatment resulted in a response rate of 40% (4/10) and a 12-week progression-free survival rate of 70% (7/10) in patients with endometrial cancer harboring CTNNB1 mutations, with a median PFS of 7.6 months (PMID: 31992589; NCT01935934). 31992589