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 | Y234C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 Y234C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y234C results in decreased Tp53 transactivation and interferes with wild-type Tp53 function in cell culture, and correlates with protein aggregates in human tumor samples (PMID: 21056685, PMID: 16861262). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 Y234C TP53 mutant TP53 inact mut TP53 Y234C |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674262T>C |
cDNA | c.701A>G |
Protein | p.Y234C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.2 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674262T>C | c.701A>G | p.Y234C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 Y234C | ovarian carcinoma | sensitive | ReACp53 | Preclinical | Actionable | In a preclinical study, ReACp53 induced cell death in human primary ovarian carcinoma cells harboring TP53 Y234C in culture (PMID: 26748848). | 26748848 |
TP53 Y234C | lung non-small cell carcinoma | decreased response | Seliciclib | Preclinical - Cell culture | Actionable | In a preclinical study, non-small cell lung carcinoma cells overexpressing TP53 Y234C demonstrated reduced sensitivity to Roscovotine (seliciclib) induced apoptosis in culture (PMID: 22862161). | 22862161 |