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@genomenon.com

Gene FBXW7
Variant L320I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FBXW7 L320I lies within the F-box domain of the Fbxw7 protein (UniProt.org). L320I has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 L320I

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.152332623G>T
cDNA c.958C>A
Protein p.L320I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532083 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_011532085 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_011532084 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_017008362 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
NM_033632 chr4:g.152332623G>T c.958C>A p.L320I RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152332623G>T c.958C>A p.L320I 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 mutant Her2-receptor negative breast cancer predicted - sensitive LY3039478 Case Reports/Case Series Actionable In a Phase I trial, LY3039478 treatment resulted in partial response lasted 9.5 months in a patient with hormone receptor-positive, Erbb2 (Her2)-negative breast cancer harboring FBXW7 mutation (PMID: 30060061; NCT01695005). 30060061