Gene Variant Detail

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Gene TP53
Variant R280D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R280D lies within the DNA binding region of the Tp53 protein (UniProt.org). R280D confers a loss of function to the Tp53 protein as demonstrated by lack of DNA binding ability and impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 7651437, PMID: 18524770).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 R280D

TP53 mutant TP53 inact mut TP53 R280D

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Transcript NM_000546.6
gDNA chr17:g.7673780_7673782delAGAinsGAC
cDNA c.838_840delAGAinsGAC
Protein p.R280D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.6 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673780_7673782delTCTinsGTC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673780_7673782delTCTinsGTC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_000546 chr17:g.7673780_7673782delTCTinsGTC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673780_7673782delAGAinsGAC c.838_840delAGAinsGAC p.R280D RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673780_7673782delTCTinsGTC c.838_840delAGAinsGAC p.R280D 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

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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References