CSF1R W450_E456del
Gene Variant Detail

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Gene CSF1R
Variant W450_E456del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions CSF1R W450_E456del results in a deletion of seven amino acids within the Ig-like C2 type domain 5 of the Csf1r protein (UniProt.org). W450_E456del confers a gain of function to the Csf1r protein, resulting in cytokine-independent cell growth and increased Mek/Erk signaling in culture (PMID: 31768065).
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R act mut CSF1R W450_E456del

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Transcript NM_001288705.3
gDNA chr5:g.150070015_150070035del21
cDNA c.1348_1368del21
Protein p.W450_E456delWDDPYPE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005211.4 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001288705.3 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001288705 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_005211 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001375321.1 chr5:g.150061539_150061559del21 c.1349_1369del21 p.E450_L456delEATAFGL RefSeq GRCh38/hg38
NM_001349736.1 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_005211.3 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001349736.2 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF1R W450_E456del Advanced Solid Tumor sensitive Pexidartinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R W450_E456del demonstrated sensitivity to treatment with Turalio (pexidartinib) in culture (PMID: 31768065). 31768065
CSF1R W450_E456del Advanced Solid Tumor sensitive BLZ945 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R W450_E456del demonstrated sensitivity to treatment with BLZ945 in culture (PMID: 31768065). 31768065