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Gene | FBXW7 |
Variant | K11R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 K11R does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). K11R results in slowed Fbxw7 degradation in an in vitro assay (PMID: 33824312), but disruption of the NSL1 function of the Fbxw7 protein in cell culture (PMID: 20815813), and therefore, is predicted to lead to a loss of Fbxw7 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 K11R |
Transcript | NM_033632.3 |
gDNA | chr4:g.152411772T>C |
cDNA | c.32A>G |
Protein | p.K11R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532086.3 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_001257069 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532086.2 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_001257069.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_047415902.1 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_024454125.1 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532086 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532087.3 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532087.2 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
XM_011532087 | chr4:g.152411510T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
NM_001257069.1 | chr4:g.152411772T>C | c.32A>G | p.K11R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FBXW7 K11R | loss of function - predicted | mTORC1 Inhibitor |