TP53 Y107H
Gene Variant Detail

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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 and induction of apoptosis similar to wild-type Tp53 in culture (PMID: 33257846,) and transcriptional activity similar to wild-type Tp53 in reporter assays (PMID: 33257846, PMID: 39140857), 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

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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_001126112.3 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_001126113.3 chr17:g.7676050A>G c.319T>C p.Y107H RefSeq GRCh38/hg38
NM_000546.5 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_000546.6 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_001407268.1 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_001407266.1 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_001126112.2 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

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries