Gene Detail

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Gene Symbol FBXW7
Synonyms AGO | CDC4 | FBW6 | FBW7 | FBX30 | FBXO30 | FBXW6 | hAgo | hCdc4 | SEL-10 | SEL10
Gene Description FBXW7, F-box/WD repeat-containing protein 7, is part of the SCF E3 ubiquitin-protein ligase complex, which plays a role in the degradation of proteins involved in cell division and cell growth (PMID: 17909001, PMID: 22673505). FBXW7 mutations have been associated with cholangiocarcinoma and acute lymphocytic leukemia (PMID: 17909001) and have been identified in many other cancers, including colorectal (PMID: 28424412), endometrial, and stomach cancer (PMID: 17909001).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function FBXW7 inact mut indicates that this variant results in a loss of function of the Fbxw7 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown FBXW7 mutant indicates an unspecified mutation in the FBXW7 gene.
C453fs frameshift loss of function - predicted FBXW7 C453fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 453 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). C453fs has not been characterized however, based on the effects of other truncation mutations downstream of C453 (PMID: 24838835), is predicted to lead to a loss of Fbxw7 protein function.
G667fs frameshift unknown FBXW7 G667fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 667 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). G667fs has been identified in the scientific literature (PMID: 25562415), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, May 2020).
G670fs frameshift unknown FBXW7 G670fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 670 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). G670fs has been identified in sequencing studies (PMID: 26076459), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, May 2020).
I435fs frameshift loss of function - predicted FBXW7 I435fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 435 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). Due to a loss of a majority of the WD repeat domains (UniProt.org), I435fs is predicted to lead to a loss of Fbxw7 protein function.
K299fs frameshift loss of function - predicted FBXW7 K299fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 299 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the WD repeat domains (UniProt.org), K299fs is predicted to lead to a loss of Fbxw7 protein function.
K444fs frameshift loss of function - predicted FBXW7 K444fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 444 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). Due to a loss of a majority of the WD repeat domains (UniProt.org), K444fs is predicted to lead to a loss of Fbxw7 protein function.
R473fs frameshift loss of function - predicted FBXW7 R473fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 473 of 707, likely resulting in a premature truncation of the functional protein (UniProt.org). Due to the loss of the majority of the WD repeat domains (UniProt.org), R473fs is predicted to lead to a loss of Fbxw7 protein function.
R543fs frameshift unknown FBXW7 R543fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 543 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). R543fs has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, May 2020).
S396fs frameshift loss of function - predicted FBXW7 S396fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 396 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). S396fs results in increased expression and activity of Myc, Hif1a, and Notch1 compared to wild-type Fbxw7 in cell culture (PMID: 30510140), and therefore, is predicted to result in a loss of Fbxw7 protein function.
S668fs frameshift unknown FBXW7 S668fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 668 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). S668fs has been identified in sequencing studies (PMID: 26373574, PMID: 30412912, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, May 2020).
T165fs frameshift loss of function - predicted FBXW7 T165fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 165 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains, T165fs is predicted to lead to a loss of Fbxw7 protein function (UniProt.org).