Gene Variant Detail

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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

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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_001407270.1 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_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_001126113.3 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_001126114.3 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_000546.5 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_000546 chr17:g.7674191C>T c.772G>A p.E258K RefSeq GRCh38/hg38
NM_001126113.2 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_001407264.1 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_001126114.2 chr17:g.7674191C>T c.772G>A p.E258K RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References