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| Gene | TP53 |
| Variant | D281E |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 D281E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281E results in loss of Tp53 binding to ZBP-89 in cell culture (PMID: 12759240), failure to induce apoptosis in Tp53-null cells in culture (PMID: 30840781), and demonstrates a lack of Tp53 transactivation activity in a yeast assay (PMID: 20407015). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon8 TP53 D281E TP53 mutant TP53 inact mut TP53 D281E |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7673777G>C |
| cDNA | c.843C>G |
| Protein | p.D281E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407264.1 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7673777G>C | c.843C>G | p.D281E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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