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Gene | TP53 |
Variant | P278R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 P278R lies within the DNA-binding domain of the Tp53 protein (UniProt.org). P278R results in decreased transactivation of p21 in a reporter assay (PMID: 39140857) and in mouse cells (corresponding to P275R), results in failure to induce expression of Tp53 target genes p21 and Noxa in a reporter assay (PMID: 20195489), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 P278R TP53 mutant TP53 inact mut TP53 P278R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673787G>C |
cDNA | c.833C>G |
Protein | p.P278R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |