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Gene | CTNNB1 |
Variant | S33Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 S33Y lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 15064718). S33Y confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1, increased Ctnnb1-driven transcription, and increased proliferation of cells in culture (PMID: 18757411). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 S33Y |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224610C>A |
cDNA | c.98C>A |
Protein | p.S33Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264886 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224610C>A | c.98C>A | p.S33Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CTNNB1 S33Y | 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 S33Y, demonstrated increased sensitivity to NMS-P715 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S33Y | 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 S33Y demonstrated increased sensitivity to Mps1-IN-1 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S33Y | colorectal adenocarcinoma | predicted - sensitive | BAY1161909 | Preclinical - Cell culture | Actionable | In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S33Y, demonstrated increased sensitivity to BAY1161909 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S33Y | 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 S33Y, demonstrated increased sensitivity to BAY1217389 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S33Y | 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 S33Y, demonstrated increased sensitivity to Mps-BAY2b compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S33Y | 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 S33Y demonstrated increased sensitivity to MPI-0479605 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S33Y | 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 S33Y, demonstrated increased sensitivity to NTRC 0066-0 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |