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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_001407268.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
NM_001276696.3 | 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_001126113.3 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
NM_000546.5 | 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_001407266.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | 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_001407269.1 | 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 |
NM_001407267.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
NM_001126118.2 | 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_001276695.3 | 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_001126113.2 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283del | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673771_7673773delGCG | c.847_849delCGC | p.R283delR | RefSeq | GRCh38/hg38 |
NM_001407271.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7673563_7673565delGGT | c.848_850delCAC | p.P283delP | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R283del | loss of function - predicted | p53 Activator p53 Gene Therapy |