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Gene | TP53 |
Variant | E258Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 E258Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E258Q confers a loss of Tp53 DNA binding ability and transcriptional activation in cell culture (PMID: 21643018). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 E258Q TP53 mutant TP53 inact mut TP53 E258Q |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674191C>G |
cDNA | c.772G>C |
Protein | p.E258Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674191C>G | c.772G>C | p.E258Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 E258Q | osteosarcoma | resistant | Nutlin-3a | Preclinical | Actionable | In a preclinical study, TP53 E258Q resulted in secondary resistance in an osteosarcoma cell line acquired during Nutlin-3 treatment (PMID: 21643018). | 21643018 |