Gene Variant Detail

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

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Transcript NM_001098210
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
NM_001904 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_006712985 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
NM_001098209 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

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
CTNNB1 S45F gain of function CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 sarcoma sensitive Imatinib Clinical Study Actionable In a retrospective analysis, patients with desmoid fibromatosis harboring CTNNB1 S45F demonstrated a greater progression arrest rate at 6 months (85%) compared to patients with CTNNB1 wild-type (45%) 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