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Gene | TP53 |
Variant | H179L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 H179L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). H179L is predicted to confer a loss of function to the Tp53 protein, as demonstrated by transformation in culture and tumor formation and invasion in animal models (PMID: 9049183). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 H179L TP53 mutant TP53 inact mut TP53 H179L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675076T>A |
cDNA | c.536A>T |
Protein | p.H179L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407270.1 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675076T>A | c.536A>T | p.H179L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 H179L | loss of function - predicted | p53 Activator p53 Gene Therapy |