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| Gene | TP53 |
| Variant | E271* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 E271* results in a premature truncation of the Tp53 protein at amino acid 271 of 393 (UniProt.org). E271* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of E271 (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 E271* TP53 mutant TP53 inact mut TP53 E271* |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7673809C>A |
| cDNA | c.811G>T |
| Protein | p.E271* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |