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Gene | FBXW7 |
Variant | K444fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | 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). K444fs has not been characterized however, due to the effects of other truncation mutations downstream of K444 (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 K444fs |
Transcript | NM_033632.3 |
gDNA | chr4:g.(152328296_152328297) |
cDNA | c.(1330_1329) |
Protein | p.K444fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532084.3 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152328298_152328299insCCGGGGGGGGGGA | c.1329_1330insCCCCCCCCCGGTC | p.K444fs*32 | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152328298_152328299insCCGGGGGGGGGGA | c.1329_1330insCCCCCCCCCGGTC | p.K444fs*32 | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152328298_152328299insCCGGGGGGGGGGA | c.1329_1330insCCCCCCCCCGGTC | p.K444fs*32 | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152328298_152328299insCCGGGGGGGGGGA | c.1329_1330insCCCCCCCCCGGTC | p.K444fs*32 | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_011532086.2 | chr4:g.(152328212_152328213) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
NM_018315.5 | chr4:g.(152326080_152326081) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_011532086 | chr4:g.152328213_152328214insCGGGGGGGGGGGGGCAC | c.1328_1329insGTGCCCCCCCCCCCCCG | p.K444fs*32 | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_024454125.1 | chr4:g.(152328212_152328213) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_011532087.2 | chr4:g.(152328212_152328213) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_047415902.1 | chr4:g.(152328212_152328213) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.(152328296_152328297) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_011532087 | chr4:g.152328213_152328214insCGGGGGGGGGGGGGCAC | c.1328_1329insGTGCCCCCCCCCCCCCG | p.K444fs*32 | RefSeq | GRCh38/hg38 |
NM_018315.4 | chr4:g.(152326080_152326081) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152328298_152328299insCCGGGGGGGGGGA | c.1329_1330insCCCCCCCCCGGTC | p.K444fs*32 | RefSeq | GRCh38/hg38 |
NM_018315 | chr4:g.152326081delT | c.1331delA | p.K444fs*32 | RefSeq | GRCh38/hg38 |
XM_011532087.3 | chr4:g.(152328212_152328213) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
XM_011532086.3 | chr4:g.(152328212_152328213) | c.(1330_1329) | p.K444fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FBXW7 K444fs | loss of function - predicted | mTORC1 Inhibitor |