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TP53 R280K - Gene Variant Detail

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Gene TP53
Variant R280K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions TP53 R280K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R280K results in interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), decreased activation and repression of wild-type Tp53 target genes (PMID: 17070499, PMID: 16322760, PMID: 18472962), as well as a gain of function in activation of novel targets, and leads to increased cell migration and invasion, and increased cell survival (PMID: 18472962, PMID: 24763051).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 act mut TP53 R280K

TP53 mutant TP53 exon8 TP53 R280K

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Transcript NM_000546.6
gDNA chr17:g.7673781C>T
cDNA c.839G>A
Protein p.R280K
Source Database RefSeq
Genome Build GRCh38/hg38

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