Gene Variant Detail

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Gene CSF3R
Variant T618I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R T618I lies within the extracellular domain proximal to the transmembrane domain of the Csf3r protein (PMID: 23656643). T618I confers a gain of function to the Csf3r protein as demonstrated by increased proliferation (PMID: 23656643), increased colony formation (PMID: 31784538), increased downstream Jak-Stat signaling in transformed cells in culture (PMID: 23656643), and led to the development of leukemia in a mouse model (PMID: 31784538).
Associated Drug Resistance

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Transcript NM_000760
gDNA chr1:g.36467833G>A
cDNA c.1853C>T
Protein p.T618I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540749 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540748 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_000760 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_156039 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_172313 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_005270493 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_017000370 chr1:g.36467833G>A c.1853C>T p.T618I 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R T618I Advanced Solid Tumor sensitive Ibrutinib + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Imbruvica (ibrutinib) and Jakafi (ruxolitinib) resulted in a synergistic effect in cells expressing CSF3R T618I, demonstrating greater decreased cell viability as compared to either agent alone (PMID: 29977015). 29977015
CSF3R T618I hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R T618I demonstrated resistance to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R T618I Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) reduced colony formation of cells expressing CSF3R T618I in culture (PMID: 26475333, PMID: 29977015). 26475333 29977015
CSF3R T618I Advanced Solid Tumor sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing CSF3R T618I were sensitive to treatment with Imbruvica (ibrutinib) in culture, demonstrating a reduced cell proliferation (PMID: 29977015). 29977015
CSF3R T618I CSF3R W791* hematologic cancer predicted - resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R W791* were resistant to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R T618I CSF3R W791* hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R W791* were resistant to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R W791* hematologic cancer predicted - resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R W791* were resistant to treatment with AZD1480 in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R Q741* hematologic cancer predicted - resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R Q741* were resistant to treatment with Jakafi (ruxolitinib) in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R Q741* hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R Q741* were resistant to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R Q741* hematologic cancer predicted - resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R Q741* were resistant to treatment with AZD1480 in culture (PMID: 28031554). 28031554
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R mutant bone marrow cancer not applicable N/A Clinical Study Emerging In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). 24081659 23656643 24441292
Molecular Profile Protein Effect Treatment Approaches
CSF3R T618I gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R T618I CSF3R W791*
CSF3R T618I CSF3R Q741*