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Gene | TP53 |
Variant | C242Afs*5 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 C242Afs*5 indicates a shift in the reading frame starting at amino acid 242 and terminating 5 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). C242Afs*5 has not been biochemically characterized however, due to the effects of truncation mutations downstream of C242 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C242fs TP53 C242Afs*5 TP53 mutant TP53 inact mut TP53 C242fs TP53 C242Afs*5 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674239delA |
cDNA | c.724delT |
Protein | p.C242Afs*5 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.5 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674241delG | c.723delC | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674241delG | c.723delC | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674241delG | c.723delC | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674239delA | c.724delT | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674241delG | c.723delC | p.C242Afs*5 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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