Gene Variant Detail

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Gene TP53
Variant R280I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 R280I lies within the DNA-binding domain of the Tp53 protein (PMID: 21056992). R280I has been identified in the scientific literature (PMID: 29700339, PMID: 27167113, PMID: 25695693), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 R280I

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Transcript NM_000546.6
gDNA chr17:g.7673781C>A
cDNA c.839G>T
Protein p.R280I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.3 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_000546 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673781C>A c.839G>T p.R280I RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673781C>A c.839G>T p.R280I 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

  • 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
  • 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 Protein Effect Treatment Approaches
TP53 R280I unknown p53 Activator p53 Gene Therapy