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 CBL
Variant C384R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL C384R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C384R results in a loss of Cbl function as indicated by decreased degradation of Jak2, and increased expression and signaling of Jak2 and Lyn kinase in cell culture (PMID: 23696637).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL C384R

CBL mutant CBL inact mut CBL C384R

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.119278220T>C
cDNA c.1150T>C
Protein p.C384R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278220T>C c.1150T>C p.C384R RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278220T>C c.1150T>C p.C384R RefSeq GRCh38/hg38
NM_005188 chr11:g.119278220T>C c.1150T>C p.C384R RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278220T>C c.1150T>C p.C384R 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