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 | H179Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 H179Y lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). H179Y confers a loss of function to the Tp53 protein as indicated by decreased transactivation of Tp53 targets, decreased growth suppression activity, decreased suppression of Nrf2 expression, increased Ccna1 and Cdk4 expression and cell proliferation in culture (PMID: 17530187, PMID: 12509279, PMID: 26497680), and increased proliferation, migration, invasion, and protein stability in culture and increases binding to Eif4a1 and Ruvbl2 (PMID: 37030635). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 H179Y TP53 mutant TP53 inact mut TP53 H179Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675077G>A |
cDNA | c.535C>T |
Protein | p.H179Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.3 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675077G>A | c.535C>T | p.H179Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|