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Gene | FBXW7 |
Variant | R393* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 R393* results in a premature truncation of the Fbxw7 protein at amino acid 393 of 707 (UniProt.org). R393* has not been characterized however, due to the effects of other truncation mutations downstream of R393 (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 R393* |
Transcript | NM_033632.3 |
gDNA | chr4:g.152329731G>A |
cDNA | c.1177C>T |
Protein | p.R393* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |