Gene Variant Detail

Gene CTNNB1
Variant S45del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 S45del results in the deletion of an amino acid at a Gsk3b phosphorylation site of the Ctnnb1 protein at amino acid 45 (PMID: 9065402). S45del confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization and nuclear accumulation of Ctnnb1 (PMID: 9065402, PMID: 21084400).
Associated Drug Resistance

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Transcript NM_001098210
gDNA chr3:g.41224645_41224647delTCT
cDNA c.133_135delTCT
Protein p.S45delS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098210 chr3:g.41224645_41224647delTCT c.133_135delTCT p.S45delS RefSeq GRCh38/hg38
XM_006712984 chr3:g.41224666_41224668delCCT c.133_135delCCT p.P45delP RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224645_41224647delTCT c.133_135delTCT p.S45delS RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224645_41224647delTCT c.133_135delTCT p.S45delS RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224645_41224647delTCT c.133_135delTCT p.S45delS RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224645_41224647delTCT c.133_135delTCT p.S45delS RefSeq GRCh38/hg38
NM_001904 chr3:g.41224645_41224647delTCT c.133_135delTCT p.S45delS RefSeq GRCh38/hg38
XM_006712983 chr3:g.41224666_41224668delCCT c.133_135delCCT p.P45delP RefSeq GRCh38/hg38

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Molecular Profile Protein Effect Treatment Approaches
CTNNB1 S45del 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 S45del 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 S45del, demonstrated increased sensitivity to BAY1161909 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45del colon carcinoma predicted - sensitive Mps1-IN-1 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colon carcinoma cell line harboring CTNNB1 S45del, demonstrated increased sensitivity to Mps1-IN-1 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45del colon carcinoma predicted - sensitive NMS-P715 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colon carcinoma cell line harboring CTNNB1 S45del, demonstrated increased sensitivity to NMS-P715 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45del colon carcinoma predicted - sensitive NTRC 0066-0 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colon carcinoma cell line harboring CTNNB1 S45del, demonstrated increased sensitivity to NTRC 0066-0 compared to cell lines with wild-type CTNNB1 or an isogenic cell line lacking the CTNNB1 mutation, in culture (PMID: 28751540). 28751540
CTNNB1 S45del colon carcinoma predicted - sensitive BAY1217389 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colon carcinoma cell line harboring CTNNB1 S45del, demonstrated increased sensitivity to BAY1217389 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45del colon carcinoma predicted - sensitive BAY1161909 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colon carcinoma cell line harboring CTNNB1 S45del, demonstrated increased sensitivity to BAY1161909 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45del colon carcinoma predicted - sensitive Mps-BAY2b Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colon carcinoma cell line harboring CTNNB1 S45del, demonstrated increased sensitivity to Mps-BAY2b compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 S45del colon carcinoma predicted - sensitive MPI-0479605 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colon carcinoma cell line harboring CTNNB1 S45del demonstrated increased sensitivity to MPI-0479605 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540