TP53 R248W
Gene Variant Detail

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Gene TP53
Variant R248W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R248W is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248W results in interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), disrupts Dnmt3a complex formation similar to wild-type Tp53 (PMID: 31640986), however, results in increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), increased tumorigenesis in mice, and leads to decreased ATM activation, resulting in increased genetic instability (PMID: 17417627, PMID: 14743206).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R248W

TP53 mutant TP53 inact mut TP53 R248W

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Transcript NM_000546.6
gDNA chr17:g.7674221G>A
cDNA c.742C>T
Protein p.R248W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407264.1 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_000546 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674221G>A c.742C>T p.R248W 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 R248W lung non-small cell carcinoma sensitive APR-246 + Cisplatin Preclinical Actionable In a preclinical study, the combination of APR-246 and Platinol (cisplatin) worked synergistically to inhibit growth of non-small lung cancer cells harboring TP53 R248W in culture (PMID: 26086967). 26086967
TP53 R248W colon carcinoma predicted - sensitive AZ32 + Radiotherapy Preclinical - Cell culture Actionable In a preclinical study, AZ32 treatment increased sensitivity to radiotherapy in colon carcinoma cells harboring TP53 R248W compared to radiotherapy alone in culture, resulting in increased mitotic catastrophe; however, wild-type TP53 cells were more sensitive to the treatment combination than TP53 R248W mutant cells (PMID: 29769307). 29769307