Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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

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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_000760
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_172313 chr1:g.36466647G>A c.2221C>T p.Q741* RefSeq GRCh38/hg38
NM_000760 chr1:g.36466647G>A c.2221C>T p.Q741* 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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 - 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
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* 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* 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 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
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 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
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 Q741* gain of function JAK Inhibitor (Pan) - ATP competitive
CSF3R T618I CSF3R Q741*