CSF1R Y571D
Gene Variant Detail

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Gene CSF1R
Variant Y571D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF1R Y571D lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). Y571D was shown to result in constitutive activation of the Csf1r protein, increased colony growth, and elevated Csf1r signaling in cultured cells (PMID: 18971950).
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R act mut CSF1R Y571D

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Transcript NM_001288705.3
gDNA chr5:g.150061765A>C
cDNA c.1711T>G
Protein p.Y571D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005211.4 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_001288705 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_001349736.1 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_005211.3 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_001349736.2 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_001288705.3 chr5:g.150061765A>C c.1711T>G p.Y571D RefSeq GRCh38/hg38
NM_005211 chr5:g.150061765A>C c.1711T>G p.Y571D 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF1R mutant Erdheim-Chester disease sensitive Pexidartinib Guideline Actionable Turalio (pexidartinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring CSF1R mutations (NCCN.org). detail...