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Gene | TP53 |
Variant | C242F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 C242F lies within a zinc-binding residue in the DNA-binding region of the Tp53 protein (UniProt.org). C242F confers of loss of function to Tp53 as demonstrated by Tp53 destabilization and decreased transactivation activity in cell culture (PMID: 25294809, PMID: 22591662), however, has been reported to demonstrate radiosensitivity similar to wild-type Tp53 (PMID: 19035295). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C242F TP53 mutant TP53 inact mut TP53 C242F |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674238C>A |
cDNA | c.725G>T |
Protein | p.C242F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674238C>A | c.725G>T | p.C242F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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