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Gene TP53
Variant E180K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 E180K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E180K confers a loss of function to the Tp53 protein, as indicated by alterations in the the proteolytic processing resulting in weak binding of BCL-xL, as well as decreased activation of downstream targets and reduced apoptosis in cell culture (PMID: 24814347).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 E180K

TP53 mutant TP53 inact mut TP53 E180K

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Transcript NM_000546.6
gDNA chr17:g.7675074C>T
cDNA c.538G>A
Protein p.E180K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001276697.3 chr17:g.7670694C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001276697.1 chr17:g.7670694C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001276698.3 chr17:g.7673318C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001276698.1 chr17:g.7673318C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001276698 chr17:g.7673318C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_000546 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001276697 chr17:g.7670694C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675074C>T c.538G>A p.E180K RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675074C>T c.538G>A p.E180K 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References