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Gene | TP53 |
Variant | P278L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 P278L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P278L results in loss of DNA binding in a reporter assay and decreased activation of Tp53 targets in culture, promotes proliferation and migration, and additionally confers a gain of function to Tp53, resulting in aberrant DNA binding in a reporter assay and transcriptional activation in culture (PMID: 38358025). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 P278L TP53 mutant TP53 inact mut TP53 P278L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673787G>A |
cDNA | c.833C>T |
Protein | p.P278L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |