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Gene | TP53 |
Variant | R249S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R249S is a hotspot mutation within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249S results in interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture and increased tumor formation in a mouse model (PMID: 33545063) but confers a loss of function to Tp53 as demonstrated by decreased DNA binding and transactivation activity of Tp53, and confers context-dependent transforming ability in cell culture (PMID: 20212049, PMID: 20538734). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 R249S TP53 mutant TP53 inact mut TP53 R249S |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674216C>G |
cDNA | c.747G>C |
Protein | p.R249S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.3 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674216C>G | c.747G>C | p.R249S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R249S | hepatocellular carcinoma | sensitive | CP-31398 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, treatment with CP-31398 resulted in decreased proliferation, increased apoptosis, and cell-cycle arrest in a hepatocellular carcinoma cell line harboring TP53 R249S in culture, and inhibited tumor growth in xenograft models (PMID: 26250460). | 26250460 |