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Gene | TP53 |
Variant | H214R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | TP53 H214R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H214R results in increased proliferation, migration, invasion, and protein stability in culture (PMID: 37030635) and increased IL-6 expression and colony formation compared to wild-type Tp53 in cell culture (PMID: 11920959), and therefore, is predicted to lead to a gain of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 act mut TP53 H214R TP53 mutant TP53 exon6 TP53 H214R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674890T>C |
cDNA | c.641A>G |
Protein | p.H214R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674890T>C | c.641A>G | p.H214R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 H214R | gain of function - predicted |