FBXW7 E192A
Gene Variant Detail

Request Content

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 E192A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FBXW7 E192A does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). E192A has been identified in the scientific literature (PMID: 35346215, PMID: 24586741), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jun 2025).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 E192A

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_001349798.2
gDNA chr4:g.152350051T>G
cDNA c.575A>C
Protein p.E192A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_033632.3 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_011532084 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_011532083 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_011532085 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_017008362 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
NM_033632 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152350051T>G c.575A>C p.E192A RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152350051T>G c.575A>C p.E192A 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 E192A fibrolamellar carcinoma predicted - sensitive Sirolimus Case Reports/Case Series Actionable In a Phase I study, Rapamune (sirolimus) resulted in prolonged stable disease in a patient with hepatocellular fibrolamellar carcinoma harboring FBXW7 E192A (PMID: 24586741). 24586741