CSF1R R549_E554delinsQ
Gene Variant Detail

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Gene CSF1R
Variant R549_E554delinsQ
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF1R R549_E554delinsQ results in a deletion of six amino acids in the regulatory juxtamembrane domain of the Csf1r protein from amino acids 549 to 554, combined with the insertion of a glutamine (Q) at the same site (UniProt.org). R549_E554delinsQ results in increased ligand-independent phosphorylation of Akt and Erk in culture (PMID: 34978715), and therefore, is predicted to lead to a gain of Csf1r protein function.
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R act mut CSF1R R549_E554delinsQ

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Transcript NM_001288705.3
gDNA chr5:g.150061816_150061830del15
cDNA c.1646_1660del15
Protein p.R549_E554delinsQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005211.4 chr5:g.150061816_150061830del15 c.1646_1660del15 p.R549_E554delinsQ RefSeq GRCh38/hg38
NM_005211.3 chr5:g.150061816_150061830del15 c.1646_1660del15 p.R549_E554delinsQ RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150061816_150061830del15 c.1646_1660del15 p.R549_E554delinsQ RefSeq GRCh38/hg38
NM_001288705.3 chr5:g.150061816_150061830del15 c.1646_1660del15 p.R549_E554delinsQ RefSeq GRCh38/hg38
NM_001349736.1 chr5:g.150061816_150061830del15 c.1646_1660del15 p.R549_E554delinsQ RefSeq GRCh38/hg38
NM_001349736.2 chr5:g.150061816_150061830del15 c.1646_1660del15 p.R549_E554delinsQ RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150061816_150061830del15 c.1646_1660del15 p.R549_E554delinsQ RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF1R R549_E554delinsQ Erdheim-Chester disease predicted - sensitive Pexidartinib Case Reports/Case Series Actionable In a clinical case study, Turalio (pexidartinib) resulted in a complete clinical and metabolic response lasting more than 1.5 years in a patient with Erdheim-Chester disease harboring CSF1R R549_E554delinsQ (PMID: 34978715). 34978715