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Gene | TP53 |
Variant | R282W |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R282W is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R282W results in increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), decreased activation of Tp53 target genes, leads to resistance to apoptosis and failure of G1arrest in culture (PMID: 31395785), and additionally acquires neomorphic DNA binding sites (PMID: 31395785), inhibits Ampk signaling, leading to invasive growth and altered cell metabolism in culture and promotes tumor development in mouse models (PMID: 24857548). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R282W TP53 mutant TP53 inact mut TP53 R282W |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673776G>A |
cDNA | c.844C>T |
Protein | p.R282W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673776G>A | c.844C>T | p.R282W | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R282W | loss of function | p53 Activator p53 Gene Therapy |