CSF1R F563_P566del
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 CSF1R
Variant F563_P566del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CSF1R F563_P566del results in the deletion of four amino acids in the regulatory juxtamembrane domain of the Csf1r protein from amino acids 563 to 566 (UniProt.org). F563_P566del has been identified in the scientific literature (PMID: 39576953), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Dec 2025).
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R F563_P566del

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_001288705.3
gDNA chr5:g.150061778_150061789del12
cDNA c.1687_1698del12
Protein p.F563_P566del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349736.2 chr5:g.150061778_150061789del12 c.1687_1698del12 p.F563_P566del RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150061778_150061789del12 c.1687_1698del12 p.F563_P566del RefSeq GRCh38/hg38
NM_005211.4 chr5:g.150061778_150061789del12 c.1687_1698del12 p.F563_P566del RefSeq GRCh38/hg38
NM_001288705.3 chr5:g.150061778_150061789del12 c.1687_1698del12 p.F563_P566del 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
CSF1R F563_P566del Erdheim-Chester disease predicted - resistant Pexidartinib Case Reports/Case Series Actionable In a clinical case study, CSF1R F563_P566del was identified at the time of progression, along with loss of the original CSF1R S560_P566del and S938_Y969del mutations, in a patient with Erheim-Chester disease, who originally achieved a partial response with Turalio (pexidartinib) treatment (PMID: 39576953). 39576953