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 CBL
Variant Q367K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL Q367K lies within the linker region of the Cbl protein (UniProt.org). Q367K results in a loss of Cbl E3 ubiquitin ligase activity, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 19620960).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Q367K

CBL mutant CBL inact mut CBL Q367K

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_005188.4
gDNA chr11:g.119278169C>A
cDNA c.1099C>A
Protein p.Q367K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278169C>A c.1099C>A p.Q367K RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278169C>A c.1099C>A p.Q367K RefSeq GRCh38/hg38
NM_005188 chr11:g.119278169C>A c.1099C>A p.Q367K RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278169C>A c.1099C>A p.Q367K 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries