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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

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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_001126113.2 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_001407268.1 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_001126112.3 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_001126112.2 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_000546.6 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001407264.1 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_001126113 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_001126114.3 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_001126114.2 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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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