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| Gene | TP53 |
| Variant | A276V |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 A276V lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). A276V results in p21 expression similar to wild-type in culture (PMID: 37697151) but leads to decreased apoptosis and caspase 3 activity upon treatment with methotrexate and increased migration compared to wild-type in culture (PMID: 37554177), and therefore, is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon8 TP53 A276V TP53 mutant TP53 inact mut TP53 A276V |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7673793G>A |
| cDNA | c.827C>T |
| Protein | p.A276V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126112.3 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7673793G>A | c.827C>T | p.A276V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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