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Gene CTNNB1
Variant S45F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 S45F lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-dependent transcription (PMID: 18282277).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 S45F

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Transcript NM_001098210.2
gDNA chr3:g.41224646C>T
cDNA c.134C>T
Protein p.S45F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047447478.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001904 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224646C>T c.134C>T p.S45F RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224646C>T c.134C>T p.S45F 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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  • 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 S45F colorectal cancer resistant Cetuximab Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line expressing CTNNB1 S45F was resistant to treatment with Erbitux (cetuximab) in culture (PMID: 33574948). 33574948
CTNNB1 S45F desmoid tumor sensitive Imatinib Clinical Study - Cohort Actionable In a retrospective analysis, patients with desmoid fibromatosis harboring CTNNB1 S45F demonstrated a greater progression arrest rate at 6 months compared to CTNNB1 wild-type patients (85% vs 43%, p=0.05) when treated with Gleevec (imatinib) (PMID: 26861905). 26861905
CTNNB1 S45F colorectal adenocarcinoma predicted - sensitive NMS-P715 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to NMS-P715 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45F colorectal adenocarcinoma predicted - sensitive Mps1-IN-1 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F demonstrated increased sensitivity to Mps1-IN-1 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45F colorectal adenocarcinoma predicted - sensitive BAY1217389 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to BAY1217389 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45F colorectal adenocarcinoma predicted - sensitive Mps-BAY2b Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to Mps-BAY2b compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45F colorectal adenocarcinoma predicted - sensitive MPI-0479605 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F demonstrated increased sensitivity to MPI-0479605 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45F colorectal adenocarcinoma predicted - sensitive NTRC 0066-0 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal carcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to NTRC 0066-0 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45F hepatocellular carcinoma sensitive WNTinib Preclinical - Patient cell culture Actionable In a preclinical study, WNTinib inhibited Ezh2 phosphorylation and viability in a patient-derived hepatocellular carcinoma cell line harboring CTNNB1 S45F in culture (PMID: 37537299). 37537299