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Gene TP53
Variant R248Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R248Q is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248Q results in increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), loss of DNA binding and decreased transactivation of Tp53 targets and interference with wild-type Tp53 transactivation, leads to resistance to apoptosis and failure of G1 arrest in cell culture (PMID: 23538418, PMID: 16861262, PMID: 31395785), as well as increased Akt activation, Stat3 dependent migration, and enhanced tumor onset and growth in mouse models (PMID: 30107178).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R248Q

TP53 mutant TP53 inact mut TP53 R248Q

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Transcript NM_000546.6
gDNA chr17:g.7674220C>T
cDNA c.743G>A
Protein p.R248Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_000546 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 I195* TP53 R248Q ovarian carcinoma sensitive ReACp53 Preclinical Actionable In a preclinical study, ReACp53 induced cell death and decreased proliferation of human primary ovarian carcinoma cells harboring both TP53 I195* and TP53 R248Q in culture (PMID: 26748848). 26748848
MDM2 pos TP53 R248Q triple-receptor negative breast cancer sensitive YX-02-030 Preclinical - Patient cell culture Actionable In a preclinical study, YX-02-030 decreased survival in a triple-negative breast cancer (TNBC) cell line harboring TP53 R248Q in culture, decreased Mdm2 expression and increased apoptosis in patient-derived TNBC explants in culture, and increased apoptosis and decreased survival in 3D mammosphere cultures (PMID: 36734633). 36734633
MDM2 pos TP53 R248Q TP53 R267L TP53 R273H triple-receptor negative breast cancer sensitive YX-02-030 Preclinical - Patient cell culture Actionable In a preclinical study, YX-02-030 decreased Mdm2 expression and increased apoptosis in patient-derived triple-negative breast cancer explants harboring TP53 R248Q, R267L, and R273H in culture (PMID: 36734633). 36734633