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| Gene | FBXW7 |
| Variant | R479P |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FBXW7 R479P lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R479P results in increased proliferation, migration, invasion, and colony formation in culture (PMID: 31161818), 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 R479P |
| Transcript | NM_001349798.2 |
| gDNA | chr4:g.152326214C>G |
| cDNA | c.1436G>C |
| Protein | p.R479P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_033632.3 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_011532084.3 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_011532084 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_024454122.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| NM_001349798.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| NM_001349798.2 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_024454123.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_047415900.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_011532085.2 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_047415899.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_011532085.3 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_024454124.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_011532085 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_024454123.2 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| NM_033632 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_047415897.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_024454121.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_047415901.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_011532084.2 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_017008362 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_047415898.1 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| XM_011532083 | chr4:g.152326214C>G | c.1436G>C | p.R479P | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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