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| Gene | TP53 |
| Variant | D281N |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 D281N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281N is associated with decreased induction of PUMA, BAX, and p21 expression in a patient sample (PMID: 19850740) and fails to induce apoptosis in Tp53-null cells in culture (PMID: 30840781), and therefore, is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon8 TP53 D281N TP53 mutant TP53 inact mut TP53 D281N |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7673779C>T |
| cDNA | c.841G>A |
| Protein | p.D281N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126113.2 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7673779C>T | c.841G>A | p.D281N | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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