Gene Variant Detail

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Gene TP53
Variant K120E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 K120E lies within the DNA binding region of the Tp53 protein (UniProt.org). K120E confers a loss of function to the Tp53 protein as demonstrated by impaired oligomerization of the pro-apoptotic protein Bak, decreased transactivation of Tp53 targets, reduced apoptotic signaling, and decreased colony suppression activity compared to wild-type Tp53 in cell culture (PMID: 18524770, PMID: 27341992).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 inact mut TP53 K120E

TP53 mutant TP53 exon4 TP53 K120E

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Transcript NM_000546.6
gDNA chr17:g.7676011T>C
cDNA c.358A>G
Protein p.K120E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126112 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_000546 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126114 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7676011T>C c.358A>G p.K120E RefSeq GRCh38/hg38

Filtering

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  • 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References