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 | FBXW7 |
Variant | D362* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 D362* results in a premature truncation of the Fbxw7 protein at amino acid 362 of 707 (UniProt.org). D362* has not been characterized however, due to the effects of other truncation mutations downstream of D362 (PMID: 30510140, PMID: 24838835), is predicted to lead to a loss of Fbxw7 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 D362* |
Transcript | NM_033632.3 |
gDNA | chr4:g.152330768_152330770delGATinsTAA |
cDNA | c.1084_1086delGATinsTAA |
Protein | p.D362* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |