Gene Variant Detail

Contact

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 S462P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 S462P lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). S462P confers a loss of function to the Fbxw7 protein as demonstrated by an inability to induce degradation of cyclin E, c-Myc, Mcl-1, and Braf in cultured cells, and confers resistance to some BET inhibitors in cultured cells (PMID: 32907612), and results in impaired degradation of NICD in cultured cells, potentially leading to increased Notch1 signaling (PMID: 27247421).
Associated Drug Resistance Y
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 S462P

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_033632.3
gDNA chr4:g.152328242A>G
cDNA c.1384T>C
Protein p.S462P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532085.3 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328242A>G c.1384T>C p.S462P RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FBXW7 S462P adult T-cell leukemia/lymphoma resistant JQ1 Preclinical - Cell culture Actionable In a preclinical study, adult T cell leukemia cells expressing FBXW7 S462P treated with JQ1 demonstrated resistance in both short term and long term culture, and showed increased phosphorylation of Braf, Mek, and Erk, and increased expression of Stat3 and Myc (PMID: 32907612). 32907612
FBXW7 S462P adult T-cell leukemia/lymphoma resistant Birabresib Preclinical - Cell culture Actionable In a preclinical study, adult T cell leukemia cells expressing FBXW7 S462P were resistant to treatment with Birabresib (OTX015) in culture (PMID: 32907612). 32907612
FBXW7 S462P adult T-cell leukemia/lymphoma sensitive JQ1 + PLX8394 Preclinical - Cell culture Actionable In a preclinical study, the combination treatment of JQ1 and PLX8394 resulted in greater decreased proliferation of adult T cell leukemia cells expressing FBXW7 S462P when compared to treatment with JQ1 alone in culture (PMID: 32907612). 32907612
FBXW7 S462P adult T-cell leukemia/lymphoma sensitive JQ1 + Ulixertinib Preclinical - Cell culture Actionable In a preclinical study, the combination treatment of JQ1 and Ulixertinib (BVD-523) resulted in greater decreased proliferation of adult T cell leukemia cells expressing FBXW7 S462P when compared to treatment with JQ1 alone in culture (PMID: 32907612). 32907612