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Gene | CTNNB1 |
Variant | S45_P52del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CTNNB1 S45_P52del results in the deletion of eight amino acids of the Ctnnb1 protein from amino acids 45 to 52 (UniProt.org). S45_P52del has been identified in sequencing studies (PMID: 39154782), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 S45_P52del |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224645_41224668del24 |
cDNA | c.133_156del24 |
Protein | p.S45_P52delSLSGKGNP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001098210.2 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
XM_047447482.1 | chr3:g.41224666_41224689del24 | c.133_156del24 | p.P45_T52delPEEEDVDT | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
NM_001330729.2 | chr3:g.41224666_41224689del24 | c.133_156del24 | p.P45_T52delPEEEDVDT | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52del | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224645_41224668del24 | c.133_156del24 | p.S45_P52delSLSGKGNP | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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