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Gene | CTNNB1 |
Variant | S45fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CTNNB1 S45fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 45 of 781, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S45fs is predicted to lead to a loss of Ctnnb1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 inact mut CTNNB1 S45fs |
Transcript | NM_001098210.2 |
gDNA | chr3:g.(41224644_41224645) |
cDNA | c.(133_132) |
Protein | p.S45fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001098210 | chr3:g.41224645delT | c.133delT | p.S45fs*2 | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224645delT | c.133delT | p.S45fs*2 | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224645delT | c.133delT | p.S45fs*2 | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224645delT | c.133delT | p.S45fs*2 | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224645delT | c.133delT | p.S45fs*2 | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224645delT | c.133delT | p.S45fs*2 | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.(41224644_41224645) | c.(133_132) | p.S45fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 S45fs | loss of function - predicted |