Gene Variant Detail

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Gene TP53
Variant R248G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 R248G is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248G retains the ability to transactivate the Tp53 target genes p21 and PCNA, and also gains the ability to activate transcription of ABCB1 (MDR-1) in cell culture (PMID: 11920959), but fails to repress FOXM1 transcriptional activity in cell culture (PMID: 22919068), and therefore, is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R248G

TP53 mutant TP53 inact mut TP53 R248G

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Transcript NM_000546.6
gDNA chr17:g.7674221G>C
cDNA c.742C>G
Protein p.R248G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_000546 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674221G>C c.742C>G p.R248G RefSeq GRCh38/hg38

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