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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 decreased transactivation of Tp53 target genes, increased cell proliferation in culture, and 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 inact mut TP53 R248W

TP53 mutant TP53 exon7 TP53 R248W

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Transcript NM_000546.5
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_000546 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_001126112.2 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_000546.5 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_001126114 chr17:g.7674221G>A c.742C>T p.R248W RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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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