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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 | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 S45del |
Transcript | NM_001098210.2 |
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 |
---|---|---|---|---|---|
XM_047447480.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_047447482.1 | chr3:g.41224666_41224668delCCT | c.133_135delCCT | p.P45delP | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45del | RefSeq | GRCh38/hg38 |
NM_001330729.2 | chr3:g.41224666_41224668delCCT | c.133_135delCCT | p.P45delP | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224645_41224647delTCT | c.133_135delTCT | p.S45delS | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 S45del | gain of function | CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor |