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Gene CSF1R
Variant E557D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CSF1R E557D lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). E557D has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
Associated Drug Resistance

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Transcript NM_005211.3
gDNA chr5:g.150061805C>G
cDNA c.1671G>C
Protein p.E557D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005211.3 chr5:g.150061805C>G c.1671G>C p.E557D RefSeq GRCh38/hg38
NM_001349736.1 chr5:g.150061805C>G c.1671G>C p.E557D RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150061805C>G c.1671G>C p.E557D RefSeq GRCh38/hg38
NM_001288705 chr5:g.150061805C>G c.1671G>C p.E557D RefSeq GRCh38/hg38
NM_005211 chr5:g.150061805C>G c.1671G>C p.E557D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
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...
Molecular Profile Protein Effect Treatment Approaches
CSF1R E557D unknown