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Gene | TP53 |
Variant | R280A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R280A lies within the DNA binding region of the Tp53 protein (UniProt.org). R280A confers a loss of function to the Tp53 protein as demonstrated by loss of Tp53 DNA binding, impaired oligomerization of the pro-apoptotic protein Bak, and resistance to apoptosis (PMID: 7969167, PMID: 18524770). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R280A TP53 mutant TP53 inact mut TP53 R280A |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673781_7673782delAGinsGC |
cDNA | c.838_839delAGinsGC |
Protein | p.R280A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |