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Gene CSF3R
Variant Q741*
Impact List nonsense
Protein Effect gain of function
Gene Variant Descriptions CSF3R Q741* results in a premature truncation of the Csf3r protein at amino acid 741 of 836 (UniProt.org). Q741* results in increased Csf3r cell surface expression, impaired receptor internalization, G-CSF hypersensitivity, elevated Stat5 activation, and is transforming in cell culture (PMID: 23656643, PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R Q741*

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Transcript NM_000760.4
gDNA chr1:g.36466647G>A
cDNA c.2221C>T
Protein p.Q741*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760 chr1:g.36466647G>A c.2221C>T p.Q741* RefSeq GRCh38/hg38
NM_172313 chr1:g.36466647G>A c.2221C>T p.Q741* RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466647G>A c.2221C>T p.Q741* RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36466647G>A c.2221C>T p.Q741* RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36466647G>A c.2221C>T p.Q741* RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466647G>A c.2221C>T p.Q741* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R Q741* Advanced Solid Tumor sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing CSF3R Q741* were sensitive to treatment with Imbruvica (ibrutinib) in culture, demonstrating a reduced cell proliferation (PMID: 29977015). 29977015
CSF3R Q741* Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing CSF3R Q741* were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased total colony formation (PMID: 29977015). 29977015
CSF3R Q741* 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 Q741*, demonstrating greater decreased cell viability as compared to either agent alone (PMID: 29977015). 29977015
CSF3R Q741* hematologic cancer predicted - sensitive AZD1480 Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R Q741* were sensitive to treatment with AZD1480 in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R Q741* hematologic cancer predicted - sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R Q741* were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R Q741* hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R Q741* demonstrated resistance to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554