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Gene | TP53 |
Variant | F341C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 F341C lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F341C results in decreased Tp53 tetramerization in cell culture (PMID: 19454241) and in yeast (PMID: 16007150), and reduced Tp53 transcriptional activity in a reporter assay (PMID: 19454241), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 F341C TP53 mutant TP53 inact mut TP53 F341C |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670687A>C |
cDNA | c.1022T>G |
Protein | p.F341C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673238A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673238A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673238A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670687A>C | c.1022T>G | p.F341C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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