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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 |