Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | FBXW7 |
Variant | C386W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 C386W lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). C386W has been identified in sequencing studies (PMID: 17457043), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 C386W |
Transcript | NM_033632.3 |
gDNA | chr4:g.152329750G>C |
cDNA | c.1158C>G |
Protein | p.C386W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415900.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_018315.5 | chr4:g.152328228A>C | c.1158T>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_018315.4 | chr4:g.152328228A>C | c.1158T>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_018315 | chr4:g.152328228A>C | c.1158T>G | p.C386W | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152329750G>C | c.1158C>G | p.C386W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|