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Gene TP53
Variant R249S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R249S is a hotspot mutation within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249S results in interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture and increased tumor formation in a mouse model (PMID: 33545063) but confers a loss of function to Tp53 as demonstrated by decreased DNA binding and transactivation activity of Tp53, and confers context-dependent transforming ability in cell culture (PMID: 20212049, PMID: 20538734).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R249S

TP53 mutant TP53 inact mut TP53 R249S

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Transcript NM_000546.6
gDNA chr17:g.7674216C>G
cDNA c.747G>C
Protein p.R249S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407268.1 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_000546 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674216C>G c.747G>C p.R249S RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674216C>G c.747G>C p.R249S 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 Protein Effect Treatment Approaches
TP53 R249S loss of function p53 Activator p53 Gene Therapy