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Gene | TP53 |
Variant | R306* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R306* results in a premature truncation of the Tp53 protein at amino acid 306 of 393 (UniProt.org). R306* results in failure to induce apoptosis in Tp53-null cells in culture (PMID: 30840781), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R306* TP53 mutant TP53 inact mut TP53 R306* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673704G>A |
cDNA | c.916C>T |
Protein | p.R306* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |