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 K444fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 K444fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 444 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). K444fs has not been characterized however, due to the effects of other truncation mutations downstream of K444 (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 K444fs

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.(152328296_152328297)
cDNA c.(1330_1329)
Protein p.K444fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_018315 chr4:g.152326081delT c.1331delA p.K444fs*32 RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
NM_018315.4 chr4:g.(152326080_152326081) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532083 chr4:g.152328298_152328299insCCGGGGGGGGGGA c.1329_1330insCCCCCCCCCGGTC p.K444fs*32 RefSeq GRCh38/hg38
XM_011532087.2 chr4:g.(152328212_152328213) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
NM_033632.3 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532086.2 chr4:g.(152328212_152328213) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
NM_033632.3 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_047415902.1 chr4:g.(152328212_152328213) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532087 chr4:g.152328213_152328214insCGGGGGGGGGGGGGCAC c.1328_1329insGTGCCCCCCCCCCCCCG p.K444fs*32 RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
NM_018315.5 chr4:g.(152326080_152326081) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532085 chr4:g.152328298_152328299insCCGGGGGGGGGGA c.1329_1330insCCCCCCCCCGGTC p.K444fs*32 RefSeq GRCh38/hg38
XM_011532084 chr4:g.152328298_152328299insCCGGGGGGGGGGA c.1329_1330insCCCCCCCCCGGTC p.K444fs*32 RefSeq GRCh38/hg38
XM_024454125.1 chr4:g.(152328212_152328213) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
NM_033632 chr4:g.152328298_152328299insCCGGGGGGGGGGA c.1329_1330insCCCCCCCCCGGTC p.K444fs*32 RefSeq GRCh38/hg38
XM_017008362 chr4:g.152328298_152328299insCCGGGGGGGGGGA c.1329_1330insCCCCCCCCCGGTC p.K444fs*32 RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532086.3 chr4:g.(152328212_152328213) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532087.3 chr4:g.(152328212_152328213) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532086 chr4:g.152328213_152328214insCGGGGGGGGGGGGGCAC c.1328_1329insGTGCCCCCCCCCCCCCG p.K444fs*32 RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.(152328296_152328297) c.(1330_1329) p.K444fs 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