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 | N239S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 N239S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). N239S (corresponding to N236S in mouse) results in a loss of promoter binding and transactivation of TP53 target genes in response to irradiation in mouse cells in culture, and cooperates with HRAS G12V to promote tumor formation in mouse models (PMID: 22553460). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 N239S TP53 mutant TP53 inact mut TP53 N239S |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674247T>C |
cDNA | c.716A>G |
Protein | p.N239S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.2 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674247T>C | c.716A>G | p.N239S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|