Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TP53 |
Variant | D281G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | TP53 D281G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281G confers a gain of function to Tp53, as indicated by increased transactivation of cytokines compared to wild-type Tp53, increased Rac1 protein activity and cell migration in culture (PMID: 22114072), increased motility and invasiveness in one of two cell lines (PMID: 30968154), and increased TIM50 promoter activity in a reporter assay (PMID: 21621504). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 act mut TP53 D281G TP53 mutant TP53 exon8 TP53 D281G |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673778T>C |
cDNA | c.842A>G |
Protein | p.D281G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407268.1 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673778T>C | c.842A>G | p.D281G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 D281G | gain of function |