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 | C141Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 C141Y lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C141Y results in a loss of transcription activity in a subset of Tp53-target genes and increased expression of genes downregulated by wild-type Tp53 in culture (PMID: 12725534). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 C141Y TP53 mutant TP53 inact mut TP53 C141Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675190C>T |
cDNA | c.422G>A |
Protein | p.C141Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407270.1 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675190C>T | c.422G>A | p.C141Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|