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
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_000546 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673781C>T c.839G>A p.R280K RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 R280K breast cancer sensitive Ganetespib Preclinical Actionable In a preclinical study, Ganetespib inhibited growth of human breast cancer cells harboring TP53 R280K in culture (PMID: 26009011). 26009011
TP53 R280K triple-receptor negative breast cancer sensitive YW3-56 Preclinical - Cell line xenograft Actionable In a preclinical study, YW3-56 inhibited proliferation of a human triple-negative breast cancer (TNBC) cell line harboring TP53 R280K in culture and inhibited tumor growth in TP53 R280K-mutant TNBC cell line xenograft models (PMID: 25612620). 25612620
TP53 R280K ovarian cancer sensitive APR-246 + Cisplatin Preclinical - Patient cell culture Actionable In a preclinical study, the combination of APR-246 and Platinol (cisplatin) worked synergistically in culture, resulting in reduced cell viability in patient derived ovarian cancer cells harboring TP53 R280K (PMID: 27179933). 27179933