Gene Variant Detail

Gene TP53
Variant R306*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 R306* results in a premature truncation of the Tp53 protein at amino acid 306 of 393 within the Tp53 tetramerization domain (PMID: 22713868). Due to the loss of the majority of the tetramerization domain (UniProt.org), R306* is predicted to lead to a loss of Tp53 function.
Associated Drug Resistance

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Transcript NM_000546
gDNA chr17:g.7673704G>A
cDNA c.916C>T
Protein p.R306*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112 chr17:g.7673704G>A c.916C>T p.R306* RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673704G>A c.916C>T p.R306* RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673704G>A c.916C>T p.R306* RefSeq GRCh38/hg38
NM_000546 chr17:g.7673704G>A c.916C>T p.R306* 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 Protein Effect Treatment Approaches
KRAS G12D PTEN dec exp TP53 R306*
TP53 R306* loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KRAS G12D PTEN dec exp TP53 R306* colorectal cancer no benefit MLN0128 + PD-0325901 Preclinical - Pdx Actionable In a preclinical study, Sapanisertib (MLN0128) and PD-0325901 combination treatment did not result in tumor growth stabilization in patient-derived xenograft models of colorectal cancer harboring KRAS G12D, decreased PTEN expression, and TP53 R306* (PMID: 26272063). 26272063