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Gene | TP53 |
Variant | R158G |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R158G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R158G retains activation of Cdkn1a and results in DNA-binding similar to wild-type Tp53 in culture (PMID: 32350249) but leads to the loss of DNA-binding activity in an in vitro assay, interferes with transactivation by wild-type Tp73 in yeast (PMID: 9472631, PMID: 12917626), and results in reduced Pmaip1 transcription, increased motility and anchorage-independent cell growth in culture and increased tumor growth in a mouse model (PMID: 32350249), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R158G TP53 mutant TP53 inact mut TP53 R158G |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675140G>C |
cDNA | c.472C>G |
Protein | p.R158G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126117.1 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126116.1 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126115 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126115.2 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126116.2 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126116 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126117.2 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675140G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126115.1 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
NM_001126117 | chr17:g.7673752G>C | c.472C>G | p.R158G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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