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Gene | TP53 |
Variant | E258K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 E258K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E258K demonstrates loss of repression of PKD1 promoter activity in a reporter assay (PMID: 16931520), loss of transactivation activity in yeast (PMID: 12826609), and loss of type 2 Deiodinase (D2) inhibition in culture (PMID: 36871014), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 E258K TP53 mutant TP53 inact mut TP53 E258K |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674191C>T |
cDNA | c.772G>A |
Protein | p.E258K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.2 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674191C>T | c.772G>A | p.E258K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 E258K | loss of function - predicted |