Gene Variant Detail

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Gene TP53
Variant R175L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R175L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R175L results in a decrease in Tp53 transactivation activity and reduced ability to induce apoptosis in cell culture (PMID: 16707427).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 inact mut TP53 R175L

TP53 mutant TP53 exon5 TP53 R175X TP53 R175L

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Transcript NM_000546.5
gDNA chr17:g.7675088C>A
cDNA c.524G>T
Protein p.R175L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.7675088C>A c.524G>T p.R175L RefSeq GRCh38/hg38
NM_000546 chr17:g.7675088C>A c.524G>T p.R175L RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675088C>A c.524G>T p.R175L RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675088C>A c.524G>T p.R175L RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675088C>A c.524G>T p.R175L RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675088C>A c.524G>T p.R175L RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675088C>A c.524G>T p.R175L RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675088C>A c.524G>T p.R175L 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 R175L colorectal cancer sensitive NSC59984 Preclinical - Cell culture Actionable In a preclinical study, treatment with NSC59984 resulted in increased degradation of mutant Tp53 and cell death in a colorectal cancer cell line harboring TP53 R175L in culture (PMID: 26294215). 26294215
TP53 R175L lung large cell carcinoma sensitive NSC319726 Preclinical - Cell culture Actionable In a preclinical study, lung large cell carcinoma cells harboring TP53 R175L demonstrated increased sensitivity to NSC319726 in culture (PMID: 22624712). 22624712