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Gene | CTNNB1 |
Variant | T42fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CTNNB1 T42fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 42 of 781, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), T42fs is predicted to confer a loss of function to the Ctnnb1 protein. |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 inact mut CTNNB1 T42fs |
Transcript | NM_001098210.2 |
gDNA | chr3:g.(41224635_41224636) |
cDNA | c.(124_123) |
Protein | p.T42fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001098209.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224637_41224638delCA | c.125_126delCA | p.T42fs*7 | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224637_41224638delCA | c.125_126delCA | p.T42fs*7 | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224637_41224638delCA | c.125_126delCA | p.T42fs*7 | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224637_41224638delCA | c.125_126delCA | p.T42fs*7 | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224637_41224638delCA | c.125_126delCA | p.T42fs*7 | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.(41224635_41224636) | c.(124_123) | p.T42fs | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224637_41224638delCA | c.125_126delCA | p.T42fs*7 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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