CBL F418I
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 CBL
Variant F418I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL F418I lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). F418I has been identified in sequencing studies (PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2025).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL F418I

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.119278534T>A
cDNA c.1252T>A
Protein p.F418I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278534T>A c.1252T>A p.F418I RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278534T>A c.1252T>A p.F418I RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278534T>A c.1252T>A p.F418I RefSeq GRCh38/hg38
NM_005188 chr11:g.119278534T>A c.1252T>A p.F418I 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
CBL mutant myelodysplastic/myeloproliferative neoplasm not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in CBL were associated with adverse prognosis in patients with chronic myelomonocytic leukemia (PMID: 26230957, PMID: 23690417, PMID: 19901108). 26230957 19901108 23690417
CBL mutant bone marrow cancer sensitive Quizartinib Preclinical Actionable In a preclinical study, Vanflyta (quizartinib) reduced white blood cell counts and decreased myeloid cell invasion in a CBL mutant mouse model with myeloproliferative disorder (PMID: 22990016). 22990016
CBL mutant systemic mastocytosis not applicable N/A Guideline Prognostic CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org). detail...
CBL mutant myelofibrosis not applicable N/A Guideline Prognostic CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). detail...