Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
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 has not been biochemically characterized however, due to the effects of truncation mutations downstream of K24 (PMID: 31081129, PMID: 34045312), 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_000546 | 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_001407270.1 | 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_001126112.2 | 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_001126114 | 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 |
NM_001126113.3 | 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_001126114.3 | 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_001407268.1 | 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_001126113.2 | chr17:g.7676525delT | c.72delA | p.K24Nfs*20 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 K24Nfs*20 | loss of function - predicted |