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Gene | FBXW7 |
Variant | G378Dfs*6 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 G378Dfs*6 indicates a shift in the reading frame starting at amino acid 378 and terminating 6 residues downstream causing a premature truncation of the 707 amino acid Fbxw7 protein (UniProt.org). G378Dfs*6 has not been characterized however, due to the effects of other truncation mutations downstream of G378 (PMID: 30510140, 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 G378Dfs*6 |
Transcript | NM_033632.3 |
gDNA | chr4:g.152329776delC |
cDNA | c.1133delG |
Protein | p.G378Dfs*6 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415901.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152329776delC | c.1133delG | p.G378Dfs*6 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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