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 | S99F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 S99F lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99F does not interfere with Tp73 transactivation in a yeast assay (PMID: 12917626) and 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 exon4 TP53 S99F TP53 mutant TP53 inact mut TP53 S99F |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676073G>A |
cDNA | c.296C>T |
Protein | p.S99F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |