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Gene | TP53 |
Variant | C242S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 C242S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C242S results in decreased Tp53 binding to DNA in cell culture (PMID: 17170001), decreased interaction with MIF (PMID: 18502749), decreased nuclear translocation of YB1 (PMID: 12743601), decreased Tp53 protein stability (PMID: 10713666), and leads to a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C242S TP53 mutant TP53 inact mut TP53 C242S |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674239A>T |
cDNA | c.724T>A |
Protein | p.C242S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674239A>T | c.724T>A | p.C242S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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