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 | C135W |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 C135W lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C135W results in decreased transactivation of p21 in a reporter assay (PMID: 39140857), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 C135W TP53 mutant TP53 inact mut TP53 C135W |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675207G>C |
cDNA | c.405C>G |
Protein | p.C135W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |