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Gene | TP53 |
Variant | E180R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 E180R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E180R demonstrates reduced DNA-binding cooperativity, and results in decreased DNA binding affinity, leading to reduced expression of BAX and PUMA, and reduced repression of target genes in cell culture (PMID: 23966881, PMID: 16035029). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 E180R TP53 mutant TP53 inact mut TP53 E180R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675073_7675074delGAinsAG |
cDNA | c.538_539delGAinsAG |
Protein | p.E180R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |