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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_001126113.2 | 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_000546 | 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_000546.6 | 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_001407262.1 | 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_001407266.1 | 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_001126114.3 | 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 |
NM_001126114.2 | chr17:g.7675212A>G | c.400T>C | p.F134L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | 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_001407268.1 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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