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Gene TP53
Variant D281G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions TP53 D281G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281G confers a gain of function to Tp53, as indicated by increased transactivation of cytokines compared to wild-type Tp53, increased Rac1 protein activity and cell migration in culture (PMID: 22114072), increased motility and invasiveness in one of two cell lines (PMID: 30968154), and increased TIM50 promoter activity in a reporter assay (PMID: 21621504).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 act mut TP53 D281G

TP53 mutant TP53 exon8 TP53 D281G

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Transcript NM_000546.6
gDNA chr17:g.7673778T>C
cDNA c.842A>G
Protein p.D281G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.3 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_000546 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673778T>C c.842A>G p.D281G RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673778T>C c.842A>G p.D281G 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 D281G high grade glioma sensitive AZ32 + Radiotherapy Preclinical - Cell line xenograft Actionable In a preclinical study, AZ32 treatment increased sensitivity to radiotherapy in malignant glioma cells harboring TP53 D281G, resulting in significantly increased survival (P=0.0015) in intracranial cell line xenograft models compared to radiotherapy alone (PMID: 29769307). 29769307