Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | TP53 |
| Variant | R283del |
| Impact List | deletion |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 R283del (also reported as R282del) results in the deletion of an amino acid in the DNA-binding domain of the Tp53 protein at amino acid 283 (PMID: 22713868). R283del results in loss of Tp53-mediated transcriptional activation in cell culture (PMID: 14690015), and therefore, is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R283del TP53 mutant TP53 inact mut TP53 R283del |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7673771_7673773delGCG |
| cDNA | c.847_849delCGC |
| Protein | p.R283delR |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000546.5 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283del | RefSeq | GRCh38/hg38 |
| NM_001407263.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001276760.3 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001276695.3 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001407267.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001407269.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283del | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283del | RefSeq | GRCh38/hg38 |
| NM_001276761.3 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283del | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001407265.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| NM_001126118.2 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001407271.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001276696.3 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|