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|Synonyms||BANDDOS | C-FMS | CD115 | CSF-1R | CSFR | FIM2 | FMS | HDLS | HDLS1 | M-CSF-R|
|Gene Description||CSF1R, colony stimulating factor 1 receptor, is a tyrosine kinase and receptor for CSF1 and IL34, which upon ligand binding activates PI3K-AKT-mTOR, RAS-RAF-MEK-ERK and STAT signaling pathways (PMID: 22186992). CSF1R is expressed by tumor-associated macrophages to induce tumor promotion (PMID: 30065206) and therefore, a number of therapies to block Csf1r are under development (PMID: 28716061), and Csf1r activating mutations have been reported in histiocytic neoplasms (PMID: 31768065).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||CSF1R act mut indicates that this variant results in a gain of function in the Csf1r protein. However, the specific amino acid change has not been identified.|
|fusion||fusion||unknown||CSF1R fusion indicates a fusion of the CSF1R gene, but the fusion partner is unknown.|
|mutant||unknown||unknown||CSF1R mutant indicates an unspecified mutation in the CSF1R gene.|
|rearrange||unknown||unknown||CSF1R rearrange indicates an unspecified rearrangement of the CSF1R gene.|