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 | E271K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 E271K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E271K results in increased colony formation compared to wild-type Tp53 in the presence of an MDM2 antagonist in cell culture and leads to tumor growth in mouse models (PMID: 35165384), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 E271K TP53 mutant TP53 inact mut TP53 E271K |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673809C>T |
cDNA | c.811G>A |
Protein | p.E271K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |