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Gene CTNNB1
Variant E55K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 E55K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). The functional effect of E55K is conflicting, as it has been reported to be associated both with and without nuclear accumulation of Ctnnb1 in patient samples (PMID: 10213482), and a Ctnnb1 peptide with E55K results in reduced phosphorylation by Ck1 in an in vitro assay (PMID: 12925738), and therefore, its effect on Ctnnb1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 E55K

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Transcript NM_001098210.2
gDNA chr3:g.41224675G>A
cDNA c.163G>A
Protein p.E55K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047447479.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001904 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224675G>A c.163G>A p.E55K RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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
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