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 | E343Gfs*2 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 E343Gfs*2 indicates a shift in the reading frame starting at amino acid 343 and terminating 2 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). E343Gfs*2 has not been biochemically characterized however, due to the effects of truncation mutations downstream of E343 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon10 TP53 E343Gfs*2 TP53 mutant TP53 inact mut TP53 E343Gfs*2 |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7670681delT |
| cDNA | c.1028delA |
| Protein | p.E343Gfs*2 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000546.6 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7670681delT | c.1028delA | p.E343Gfs*2 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|