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| Gene | TP53 |
| Variant | F134L |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 F134L lies within the DNA binding region of the Tp53 protein (UniProt.org). F134L results in a loss of Tp53-dependent DNA damage response (PMID: 14587098), altered subcellular localization, failure to induce apoptosis in culture, decreased expression of downstream Tp53-targets, and decreased transactivation activity in a reporter assay (PMID: 31081129). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon5 TP53 F134L TP53 mutant TP53 inact mut TP53 F134L |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7675212A>G |
| cDNA | c.400T>C |
| Protein | p.F134L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407270.1 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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