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Gene | TP53 |
Variant | I195T |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 I195T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I195T results in destabilization of the Tp53 protein, an increased rate of protein aggregation (PMID: 12700230), reduced DNA binding ability relative to wild-type Tp53 in an in vitro assay (PMID: 11782540), increased cytoplasmic localization in Tp53-null cells, increased cellular growth rate, decreased transactivation of Tp53 target genes, and reduced apoptotic function in cell culture (PMID: 23246812). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 I195T TP53 mutant TP53 inact mut TP53 I195T |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674947A>G |
cDNA | c.584T>C |
Protein | p.I195T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674947A>G | c.584T>C | p.I195T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 I195T | loss of function |