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Gene TP53
Variant R280M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R280M lies within the DNA binding domain of the Tp53 protein (UniProt.org). R280M results in decreased DNA binding and activation of Tp53 target genes and resistance to apoptosis in cell culture (PMID: 21643018).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 R280M

TP53 mutant TP53 inact mut TP53 R280M

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Transcript NM_000546.6
gDNA chr17:g.7673780_7673781delGAinsTG
cDNA c.839_840delGAinsTG
Protein p.R280M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673780_7673781delTCinsCA c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673780_7673781delTCinsCA c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_000546 chr17:g.7673780_7673781delTCinsCA c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673780_7673781delTCinsCA c.839_840delGAinsTG p.R280M RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673780_7673781delGAinsTG c.839_840delGAinsTG p.R280M 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
TP53 R280M osteosarcoma resistant Nutlin-3a Preclinical Actionable In a preclinical study, TP53 R280M resulted in secondary resistance in an osteosarcoma cell line acquired during Nutlin-3 treatment (PMID: 21643018). 21643018