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Gene | TP53 |
Variant | R248P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R248P is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248P is predicted to confer a loss of function to the Tp53 protein, as demonstrated by a lack of transactivation in cell culture (PMID: 8062826). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 R248P TP53 mutant TP53 inact mut TP53 R248P |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674220C>G |
cDNA | c.743G>C |
Protein | p.R248P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674220C>G | c.743G>C | p.R248P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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