CSF1R Y561_I564del
Gene Variant Detail

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Gene CSF1R
Variant Y561_I564del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CSF1R Y561_I564del results in the deletion of four amino acids in the regulatory juxtamembrane domain of the Csf1r protein from amino acids 561 to 564 (UniProt.org). Y561_I564del has been identified in the scientific literature (PMID: 31768065, PMID: 34978715), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R Y561_I564del

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Transcript NM_001288705.3
gDNA chr5:g.150061784_150061795del12
cDNA c.1681_1692del12
Protein p.Y561_I564del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001288705.3 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_005211.4 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_005211 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_001349736.2 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_001288705 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_001349736.1 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38
NM_005211.3 chr5:g.150061784_150061795del12 c.1681_1692del12 p.Y561_I564del RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF1R Y561_I564del Advanced Solid Tumor sensitive Pexidartinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y561_I564del demonstrated sensitivity to treatment with Turalio (pexidartinib) in culture (PMID: 31768065). 31768065
CSF1R Y561_I564del Advanced Solid Tumor sensitive BLZ945 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y561_I564del demonstrated sensitivity to treatment with BLZ945 in culture (PMID: 31768065). 31768065