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| Gene | TP53 |
| Variant | K24Nfs*20 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 K24Nfs*20 indicates a shift in the reading frame starting at amino acid 24 and terminating 20 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). K24Nfs*20 results in failure to induce apoptosis in Tp53-null cells in culture (PMID: 30840781), and therefore, is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon2 TP53 K24Nfs*20 TP53 mutant TP53 inact mut TP53 K24Nfs*20 |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7676525delT |
| cDNA | c.72delA |
| Protein | p.K24Nfs*20 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407268.1 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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