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Gene TP53
Variant E180R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 E180R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E180R demonstrates reduced DNA-binding cooperativity, and results in decreased DNA binding affinity, leading to reduced expression of BAX and PUMA, and reduced repression of target genes in cell culture (PMID: 23966881, PMID: 16035029).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 E180R

TP53 mutant TP53 inact mut TP53 E180R

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Transcript NM_000546.6
gDNA chr17:g.7675073_7675074delGAinsAG
cDNA c.538_539delGAinsAG
Protein p.E180R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.3 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001276697 chr17:g.7670693_7670694delTCinsCT c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001276697.1 chr17:g.7670693_7670694delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001276697.3 chr17:g.7670693_7670694delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675073_7675074delTCinsCT c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001276698.3 chr17:g.7673317_7673318delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001276698.1 chr17:g.7673317_7673318delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675073_7675074delTCinsCT c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_000546 chr17:g.7675073_7675074delTCinsCT c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675073_7675074delGAinsAG c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675073_7675074delTCinsCT c.538_539delGAinsAG p.E180R RefSeq GRCh38/hg38
NM_001276698 chr17:g.7673317_7673318delTCinsCT c.538_539delGAinsAG p.E180R 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 E180R acute myeloid leukemia sensitive Cytarabine + Doxorubicin Preclinical Actionable In a preclinical study, the combination of Cytosar-U (cytarabine) and Adriamycin (doxorubicin) inhibited tumor growth and increased survival (p<0.0001) compared to control treatment in a mouse model of acute myeloid leukemia harboring TP53 E177R (corresponding to E180R in human) (PMID: 34907344). 34907344