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 | C275Y |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 C275Y lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C275Y is predicted to confer a loss of function to Tp53, as it results in decreased activation of the Tp53 target p21, and is associated with increased glycolysis in cell culture (PMID: 28993478). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 C275Y TP53 mutant TP53 inact mut TP53 C275Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673796C>T |
cDNA | c.824G>A |
Protein | p.C275Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673796C>T | c.824G>A | p.C275Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|