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 | R342* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R342* results in a premature truncation of the Tp53 protein at amino acid 342 of 393 (UniProt.org). R342* results in increased proliferation, migration, invasion, and protein stability and altered subcellular expression in culture (PMID: 37030635), and confers a loss of function to the Tp53 protein as demonstrated by decreased nuclear localization and reduced transactivation of Tp53 targets in cell culture (PMID: 16969106). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 R342* TP53 mutant TP53 inact mut TP53 R342* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670685G>A |
cDNA | c.1024C>T |
Protein | p.R342* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7670685G>A | c.1024C>T | p.R342* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|