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 | C242_R248delinsW |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 C242_R248delinsW results in a deletion of seven amino acids in the DNA-binding domain of the Tp53 protein from amino acids 242 to 248, combined with the insertion of a tryptophan (W) at the same site (UniProt.org). C242_R248delinsW has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C242_R248delinsW |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674221_7674238del18 |
cDNA | c.726_743del18 |
Protein | p.C242_R248delinsW |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |