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| Gene | TP53 |
| Variant | Y220C |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 Y220C is a hotspot mutation that lies within the DNA-binding domain (PMID: 17401432). Y220C results in decreased DNA binding, reduced Tp53 transcriptional activity, leads to resistance to apoptosis and failure of G1 arrest in cell culture (PMID: 16861262, PMID: 23630318, PMID: 31395785). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon6 TP53 Y220C TP53 mutant TP53 inact mut TP53 Y220C |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7674872T>C |
| cDNA | c.659A>G |
| Protein | p.Y220C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407262.1 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7674872T>C | c.659A>G | p.Y220C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| TP53 Y220C | loss of function | p53 Activator p53 Gene Therapy |
| TP53 P72R TP53 Y220C |