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 Y368_K382del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CBL Y368_K382del results in the deletion of 15 amino acids within the linker region of the Cbl protein from amino acids 368 to 382 (UniProt.org). Y368_K382del has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y368_K382del

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.119278172_119278216del45
cDNA c.1102_1146del45
Protein p.Y368_K382del15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 RefSeq GRCh38/hg38
XM_017018511 chr11:g.119285208_119285252del45 c.1103_1147del45 p.H368_L382del15 RefSeq GRCh38/hg38
NM_005188 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 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