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 | K351N |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 K351N lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). K351N demonstrates a similar half-life compared to wild-type Tp53, but results in decreased Tp53 tetramerization, and impairs nuclear export of Tp53 in cultured cells, and results in decreased Tp53 transcriptional activity in reporter assays (PMID: 19806023) |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon10 TP53 K351N TP53 mutant TP53 inact mut TP53 K351N |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7670656C>G |
| cDNA | c.1053G>C |
| Protein | p.K351N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407262.1 | chr17:g.7670656C>G | c.1053G>C | p.K351N | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7670656C>G | c.1053G>C | p.K351N | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7670656C>G | c.1053G>C | p.K351N | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7670656C>G | c.1053G>C | p.K351N | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7670656C>G | c.1053G>C | p.K351N | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7670656C>G | c.1053G>C | p.K351N | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7670656C>G | c.1053G>C | p.K351N | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|