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Gene | TP53 |
Variant | C124S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | TP53 C124S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C124S results in induction of p21 similar to wild-type Tp53 in culture (PMID: 34679713) but is predicted to confer a gain of function to the Tp53 protein as demonstrated by enhanced DNA-binding capacity in cell culture (PMID: 12034820). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 act mut TP53 C124S TP53 mutant TP53 exon4 TP53 C124S |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675999A>T |
cDNA | c.370T>A |
Protein | p.C124S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.3 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675999A>T | c.370T>A | p.C124S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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