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Gene | TP53 |
Variant | R280D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R280D lies within the DNA binding region of the Tp53 protein (UniProt.org). R280D confers a loss of function to the Tp53 protein as demonstrated by lack of DNA binding ability and impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 7651437, PMID: 18524770). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R280D TP53 mutant TP53 inact mut TP53 R280D |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673780_7673782delAGAinsGAC |
cDNA | c.838_840delAGAinsGAC |
Protein | p.R280D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |