Gene Variant Detail

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Gene TP53
Variant E258Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 E258Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E258Q confers a loss of Tp53 DNA binding ability and transcriptional activation in cell culture (PMID: 21643018).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 inact mut TP53 E258Q

TP53 mutant TP53 exon7 TP53 E258Q

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Transcript NM_000546.5
gDNA chr17:g.7674191C>G
cDNA c.772G>C
Protein p.E258Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38
NM_000546 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674191C>G c.772G>C p.E258Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 E258Q osteosarcoma resistant Nutlin-3a Preclinical Actionable In a preclinical study, TP53 E258Q resulted in secondary resistance in an osteosarcoma cell line acquired during Nutlin-3 treatment (PMID: 21643018). 21643018