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 | H179Q |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 H179Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179Q results in decreased Tp53 transactivation activity and disruption of the G1 checkpoint in cell culture (PMID: 16209708, PMID: 22540896). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon5 TP53 H179Q TP53 mutant TP53 inact mut TP53 H179Q |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7675075A>T |
| cDNA | c.537T>A |
| Protein | p.H179Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126113 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7675075A>T | c.537T>A | p.H179Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|