Gene Variant Detail

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Gene FBXW7
Variant S396fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 S396fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 396 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). S396fs results in increased expression and activity of Myc, Hif1a, and Notch1 compared to wild-type Fbxw7 in cell culture (PMID: 30510140), 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 S396fs

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Transcript NM_033632.3
gDNA chr4:g.(152329722_152329723)
cDNA c.(1186_1185)
Protein p.S396fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454123.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_018315 chr4:g.(152326224_152326225) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_033632.3 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_033632 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_033632.3 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_011532084 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_011532083 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_018315.5 chr4:g.(152326224_152326225) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_011532085 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
NM_018315.4 chr4:g.(152326224_152326225) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38
XM_017008362 chr4:g.(152329722_152329723) c.(1186_1185) p.S396fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References