Gene Variant Detail

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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

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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_001407266.1 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_001126112.3 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_001407268.1 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_001407270.1 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 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_001126113.3 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_001126112.2 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 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_000546.5 chr17:g.7674890T>C c.641A>G p.H214R RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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