Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | TP53 |
| Variant | N345* |
| Impact List | nonsense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 N345* results in a premature truncation of the Tp53 protein at amino acid 345 of 393 (UniProt.org). N345* results in oligomerization potential similar to wild-type Tp53, but results in increased Tp53 nuclear localization and protein stability, decreased DNA binding, and loss of Tp53 transactivation activity in cultured cells (PMID: 34045312). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon10 TP53 N345* TP53 mutant TP53 inact mut TP53 N345* |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7670674_7670676delAATinsTAA |
| cDNA | c.1033_1035delAATinsTAA |
| Protein | p.N345* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000546.6 | chr17:g.7670674_7670676delAATinsTAA | c.1033_1035delAATinsTAA | p.N345* | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7670674_7670676delAATinsTAA | c.1033_1035delAATinsTAA | p.N345* | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7670674_7670676delAATinsTAA | c.1033_1035delAATinsTAA | p.N345* | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7670674_7670676delAATinsTAA | c.1033_1035delAATinsTAA | p.N345* | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7670674_7670676delAATinsTAA | c.1033_1035delAATinsTAA | p.N345* | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7670674_7670676delAATinsTAA | c.1033_1035delAATinsTAA | p.N345* | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7670674_7670676delAATinsTAA | c.1033_1035delAATinsTAA | p.N345* | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|