Gene Variant Detail

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Gene CTNNB1
Variant S45N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 S45N lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). S45N has been identified in the scientific literature (PMID: 26998061, PMID: 26414222), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 S45N

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Transcript NM_001098210.2
gDNA chr3:g.41224645_41224646delTCinsAA
cDNA c.133_134delTCinsAA
Protein p.S45N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024453357.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001904 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224645_41224646delTCinsAA c.133_134delTCinsAA p.S45N RefSeq GRCh38/hg38

Filtering

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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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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 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 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 desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (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