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 | R283del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R283del (also reported as R282del) results in the deletion of an amino acid in the DNA-binding domain of the Tp53 protein at amino acid 283 (PMID: 22713868). R283del results in loss of Tp53-mediated transcriptional activation in cell culture (PMID: 14690015), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R283del TP53 mutant TP53 inact mut TP53 R283del |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673771_7673773delGCG |
cDNA | c.847_849delCGC |
Protein | p.R283delR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |