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| Gene | TP53 |
| Variant | C238S |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 C238S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238S confers of loss of function to Tp53 as demonstrated by Tp53 destabilization and decreased transactivation activity in cell culture (PMID: 25294809). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C238S TP53 mutant TP53 inact mut TP53 C238S |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7674251A>T |
| cDNA | c.712T>A |
| Protein | p.C238S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126114.3 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407265.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276695.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276761.3 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126118 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407269.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276696.3 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126118.2 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276696.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276696 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276761 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276695 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407263.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407267.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276760.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276760.3 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276760 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276695.3 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407271.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126118.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7674251A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| NM_001276761.1 | chr17:g.7673791A>T | c.712T>A | p.C238S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| TP53 C238S | high grade glioma | sensitive | AZ32 + Radiotherapy | Preclinical - Cell culture | Actionable | In a preclinical study, AZ32 treatment increased sensitivity to radiotherapy in malignant glioma cells harboring TP53 C238S in culture, resulting in a greater decrease in cell survival compared to radiation treatment alone (PMID: 29769307). | 29769307 |