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Gene | TP53 |
Variant | Y107H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 Y107H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y107H results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells in one study (PMID: 33257846), however, results in decreased suppression of colony formation in TP53-null cells, increased sensitivity to DNA-damaging agents, altered transactivation of a subset of target genes, and impaired chromatin binding in culture and increased tumor formation in mouse models in another study (PMID: 37140445), and therefore, its effect on Tp53 protein function is unknown |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 Y107H |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676050A>G |
cDNA | c.319T>C |
Protein | p.Y107H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.5 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7676050A>G | c.319T>C | p.Y107H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 Y107H | unknown |