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Gene | TP53 |
Variant | R280T |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R280T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R280T results in a loss of Tp53 transactivation activity and is transforming in cell culture (PMID: 16616891, PMID: 8464896), and leads to increased cell proliferation, survival, and phosphorylation of Akt in culture, and promotes tumor formation in mouse models (PMID: 32117754). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R280T TP53 mutant TP53 inact mut TP53 R280T |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673781C>G |
cDNA | c.839G>C |
Protein | p.R280T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407264.1 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673781C>G | c.839G>C | p.R280T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R280T | loss of function | p53 Activator p53 Gene Therapy |