TP53 C242Afs*5
Gene Variant Detail

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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 other 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

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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_001126112.3 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_001126112 chr17:g.7674241delG c.723delC p.C242Afs*5 RefSeq GRCh38/hg38
NM_001407262.1 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_001126114.3 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_001126113.3 chr17:g.7674239delA c.724delT p.C242Afs*5 RefSeq GRCh38/hg38
NM_000546.5 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_001126113 chr17:g.7674241delG c.723delC p.C242Afs*5 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674239delA c.724delT p.C242Afs*5 RefSeq GRCh38/hg38
NM_001407268.1 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_001126112.2 chr17:g.7674239delA c.724delT p.C242Afs*5 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674239delA c.724delT p.C242Afs*5 RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674241delG c.723delC p.C242Afs*5 RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References