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Gene TP53
Variant R273L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R273L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273L results in decreased Tp53 transactivation and decreased transcriptional repression of Tp53 targets in cell culture (PMID: 10787423, PMID: 8336941).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 R273X TP53 R273L

TP53 mutant TP53 inact mut TP53 R273L

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Transcript NM_000546.6
gDNA chr17:g.7673802C>A
cDNA c.818G>T
Protein p.R273L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113.3 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_000546 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673802C>A c.818G>T p.R273L RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673802C>A c.818G>T p.R273L 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 R273L lung small cell carcinoma sensitive APR-246 Preclinical - Cell line xenograft Actionable In a preclinical study, APR-246 demonstrated efficacy in cell line xenograft models of small cell lung cancer harboring TP53 R273L (PMID: 21415220). 21415220