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 | C176F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 C176F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176F results in similar mitotic rate and apoptotic activity as wild-type Tp53 but decreased tumor initiation and proliferation in a zebrafish model also expressing KRAS G12D (PMID: 37266578), results in the inability to induce CDKN1A (p21) transcription in cell culture (PMID: 22090360), and leads to increased proliferation, migration, invasion, and Tp53 protein stability in culture (PMID: 37030635), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 C176F TP53 mutant TP53 inact mut TP53 C176F |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675085C>A |
cDNA | c.527G>T |
Protein | p.C176F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.3 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675085C>A | c.527G>T | p.C176F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|