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Gene | TP53 |
Variant | C242fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 C242fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 242 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). C242fs 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 mutant TP53 inact mut TP53 C242fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7674239_7674240) |
cDNA | c.(724_723) |
Protein | p.C242fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407264.1 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7674239_7674240) | c.(724_723) | p.C242fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 C242fs | acute myeloid leukemia | predicted - sensitive | thioureidobutyronitrile | Preclinical - Cell culture | Actionable | In a preclinical study, Kevetrin (thioureidobutyronitrile) treatment resulted in apoptosis, decreased cell viability, altered cell cycle progression, elevated expression of Tp53 target genes, and increased Tp53 nuclear localization in an acute myeloid leukemia cell line harboring TP53 C242fs in culture (PMID: 32945487). | 32945487 |