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| Gene | TP53 |
| Variant | N288fs |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 N288fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 288 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). N288fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of N288 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon8 TP53 N288fs TP53 mutant TP53 inact mut TP53 N288fs |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.(7673758_7673759) |
| cDNA | c.(862_861) |
| Protein | p.N288fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407268.1 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.(7673758_7673759) | c.(862_861) | p.N288fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| TP53 N288fs | loss of function - predicted | |
| TP53 Y220C TP53 N288fs |