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 | R213* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R213* results in a premature truncation of the Tp53 protein at amino acid 213 of 393 (UniProt.org). R213* results in increased proliferation, migration, invasion, and Tp53 protein stability in culture (PMID: 37030635), and due to the effects of truncation mutations downstream of R213 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 R213* TP53 mutant TP53 inact mut TP53 R213* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674894G>A |
cDNA | c.637C>T |
Protein | p.R213* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.3 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674894G>A | c.637C>T | p.R213* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM T1200Lfs*7 NRAS Q61K TP53 R213* | sarcoma | predicted - resistant | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) treatment resulted in rapid disease progression in a patient with high-grade sarcoma harboring ATM T1200Lfs*7, NRAS Q61K, and TP53 R213* (PMID: 29304353). | 29304353 |