CSF1R Y546_K551del
Gene Variant Detail

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Gene CSF1R
Variant Y546_K551del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions CSF1R Y546_K551del results in the deletion of six amino acids in the regulatory juxtamembrane domain of the Csf1r protein from amino acids 546 to 551 (UniProt.org). Y546_K551del confers a gain of function to the Csf1r protein, as it leads to increased Mek/Erk signaling in vitro and increased cytokine-independent cell growth in culture (PMID: 31768065).
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R act mut CSF1R Y546_K551del

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Transcript NM_001288705.3
gDNA chr5:g.150061826_150061843del18
cDNA c.1636_1653del18
Protein p.Y546_K551delYQVRWK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349736.2 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_005211.3 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_005211.4 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_005211 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_001288705.3 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_001375321.1 chr5:g.150059735_150059752del18 c.1636_1653del18 p.E546_Y551delEGGVDY RefSeq GRCh38/hg38
NM_001349736.1 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38
NM_001288705 chr5:g.150061826_150061843del18 c.1636_1653del18 p.Y546_K551delYQVRWK RefSeq GRCh38/hg38

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  • 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 Y546_K551del Advanced Solid Tumor sensitive Pexidartinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y546_K551del demonstrated sensitivity to treatment with Turalio (pexidartinib) in culture (PMID: 31768065). 31768065
CSF1R Y546_K551del Advanced Solid Tumor sensitive BLZ945 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y546_K551del demonstrated sensitivity to treatment with BLZ945 in culture (PMID: 31768065). 31768065