Gene Variant Detail

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Gene TP53
Variant G245S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 G245S is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245S results in a loss of wild-type Tp53 transcriptional activity, and also confers a gain of function to Tp53, resulting in enhanced Akt signaling and transformation in cell culture (PMID: 20212049, PMID: 23538418, PMID: 17417775).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 G245S

TP53 mutant TP53 inact mut TP53 G245S

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Transcript NM_000546.5
gDNA chr17:g.7674230C>T
cDNA c.733G>A
Protein p.G245S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112 chr17:g.7674230C>T c.733G>A p.G245S RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674230C>T c.733G>A p.G245S RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674230C>T c.733G>A p.G245S RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674230C>T c.733G>A p.G245S RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674230C>T c.733G>A p.G245S RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674230C>T c.733G>A p.G245S RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674230C>T c.733G>A p.G245S RefSeq GRCh38/hg38
NM_000546 chr17:g.7674230C>T c.733G>A p.G245S 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 G245S lung non-small cell carcinoma sensitive SLMP53-2 Preclinical - Cell culture Actionable In a preclinical study, SLMP53-2 inhibited growth of a non-small cell lung carcinoma cell line expressing TP53 G245S in culture (PMID: 31405179). 31405179