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Gene | TP53 |
Variant | E285V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 E285V lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). E285V results in decreased Tp53 transactivation activity and reduced growth suppression ability in cell culture (PMID: 25584008, PMID: 18762572). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 E285V TP53 mutant TP53 inact mut TP53 E285V |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673766T>A |
cDNA | c.854A>T |
Protein | p.E285V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673766T>A | c.854A>T | p.E285V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 E285V | loss of function | p53 Activator p53 Gene Therapy |