Gene Detail

Gene Symbol CSF3R
Synonyms CD114 | GCSFR | SCN7
Gene Description CSF3R, colony stimulating factor 3 receptor, encodes a cytokine receptor regulating proliferation and differentiation of myeloid progenitor cells (PMID: 27789332). CSF3R mutations commonly occur in chronic neutrophilic leukemia and acute myeloid leukemia (PMID: 23896413, PMID: 30348809).
Entrez Id 1441
Chromosome 1
Map Location 1p34.3
Canonical Transcript NM_000760

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E700Q missense unknown CSF3R E700Q lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E700Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
W547R missense unknown CSF3R W547R lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). W547R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R233W missense unknown CSF3R R233W lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R233W has been identified in sequencing studies (PMID: 26857262), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
mutant unknown unknown CSF3R mutant indicates an unspecified mutation in the CSF3R gene.
Q793* nonsense gain of function CSF3R Q793* results in a premature truncation of the Csf3r protein at amino acid 793 of 836 (UniProt.org). Q793* results in increased cell surface Csf3r expression, hypersensitivity to G-CSF stimulation, increased Stat5 phosphorylation, and is transforming in cell culture (PMID: 28439110).
P34L missense unknown CSF3R P34L lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). P34L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E149Q missense unknown CSF3R E149Q lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149Q has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
W202S missense unknown CSF3R W202S lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). W202S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
W279* nonsense loss of function - predicted CSF3R W279* results in a premature truncation of the Csf3r protein at amino acid 27 of 836 (UniProt.org). Due to the loss of the transmembrane domain (UniProt.org), W279* is predicted to lead to a loss of Csf3r protein function.
V812F missense unknown CSF3R V812F lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). V812F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A778V missense unknown CSF3R A778V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). A778V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
L55Q missense unknown CSF3R L55Q lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). L55Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
I598M missense unknown CSF3R I598M lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). I598M has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R428K missense unknown CSF3R R428K lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R428K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G539C missense unknown CSF3R G539C lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). G539C has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
K180N missense unknown CSF3R K180N lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). K180N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
D510H missense unknown CSF3R D510H lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). D510H has been identified in sequencing studies (PMID: 27742771), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T618I missense gain of function 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 and increased downstream Jak-Stat signaling in transformed cells in culture (PMID: 23656643).
Q197H missense unknown CSF3R Q197H lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Q197H has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
P782L missense unknown CSF3R P782L lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P782L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E405K missense unknown CSF3R E405K lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E405K has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R769C missense unknown CSF3R R769C lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). R769C has been identified in sequencing studies (PMID: 25798586), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
L595V missense unknown CSF3R L595V lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). L595V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G415R missense unknown CSF3R G415R lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). G415R has been identified in the scientific literature (PMID: 30295334), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
P467L missense unknown CSF3R P467L lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). P467L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
D320N missense unknown CSF3R D320N lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). D320N has been identified in the scientific literature (PMID: 23774674), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E254K missense unknown CSF3R E254K lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). E254K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A602S missense unknown CSF3R A602S lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). A602S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
M601I missense unknown CSF3R M601I lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). M601I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S374Y missense unknown CSF3R S374Y lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S374Y has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G72R missense unknown CSF3R G72R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). G72R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R367W missense unknown CSF3R R367W lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R367W has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
W105R missense unknown CSF3R W105R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). W105R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E363V missense unknown CSF3R E363V lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E363V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S469Qfs*5 frameshift loss of function - predicted CSF3R S469Qfs*5 indicates a shift in the reading frame starting at amino acid 469 and terminating 5 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). Due to the loss of the transmembrane domain (UniProt.org), S469Qfs*5 is predicted to lead to a loss of Csf3r protein function.
A124V missense unknown CSF3R A124V lies within the extracellular domain of the Csf3r protein (UniProt.org). A124V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
D236G missense unknown CSF3R D236G lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). D236G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
H436Mfs*12 frameshift loss of function - predicted CSF3R H436Mfs*12 indicates a shift in the reading frame starting at amino acid 436 and terminating 12 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). Due to the loss of the transmembrane domain (UniProt.org), H436Mfs*12 is predicted to lead to a loss of Csf3r protein function.
K785E missense unknown CSF3R K785E lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K785E has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
M231V missense unknown CSF3R M231V lies within the extracellular domain of the Csf3r protein (UniProt.org). M231V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T690M missense unknown CSF3R T690M lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T690M has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G513E missense unknown CSF3R G513E lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). G513E has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
N713K missense unknown CSF3R N713K lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N713K has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R118P missense unknown CSF3R R118P lies within the extracellular domain of the Csf3r protein (UniProt.org). R118P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T799S missense unknown CSF3R T799S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T799S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
D40N missense unknown CSF3R D40N lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). D40N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
P34S missense unknown CSF3R P34S lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). P34S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T476I missense unknown CSF3R T476I lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). T476I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A832V missense unknown CSF3R A832V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). A832V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
Q741* nonsense loss of function - predicted CSF3R Q741* results in a premature truncation of the Csf3r protein at amino acid 741 of 836 (UniProt.org). Q741* is predicted to confer a loss of function to the Csf3r protein, as demonstrated by increased proliferation of transformed cells in culture (PMID: 23656643).
P527S missense unknown CSF3R P527S lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). P527S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E331* nonsense loss of function - predicted CSF3R E331* results in a premature truncation of the Csf3r protein at amino acid 331 of 836 (UniProt.org). Due to the loss of the transmembrane and cytoplasmic domains (UniProt.org), E331* is predicted to lead to a loss of Csf3r protein function (PubMed, Nov 2015).
A119T missense unknown CSF3R A119T lies within the extracellular domain of the Csf3r protein (UniProt.org). A119T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A593T missense unknown CSF3R A593T lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). A593T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S581F missense unknown CSF3R S581F lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
I48N missense unknown CSF3R I48N lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). I48N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
C52G missense unknown CSF3R C52G lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). C52G has been identified in sequencing studies (PMID: 27742771), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
D771fs frameshift loss of function - predicted CSF3R D771fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 771 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). D771fs has not been characterized however, due to the effects of other truncation mutations downstream of D771, D771fs is predicted to lead to a loss of Csf3r protein function (PMID: 23656643).
G81R missense unknown CSF3R G81R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). G81R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
M133I missense unknown CSF3R M133I lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). M133I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
P360L missense unknown CSF3R P360L lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). P360L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
Y121S missense unknown CSF3R Y121S lies within the extracellular domain of the Csf3r protein (UniProt.org). Y121S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R274C missense unknown CSF3R R274C lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R274C has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A383V missense unknown CSF3R A383V lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). A383V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
P20L missense unknown CSF3R P20L lies within the signal peptide region of the Csf3r protein (UniProt.org). P20L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A208V missense unknown CSF3R A208V lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). A208V has been identified in sequencing studies (PMID: 25957691), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R343W missense unknown CSF3R R343W lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R343W has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S469Afs*22 frameshift loss of function - predicted CSF3R S469Afs*22 indicates a shift in the reading frame starting at amino acid 469 and terminating 22 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). Due to the loss of the transmembrane domain (UniProt.org), S469Afs*22 is predicted to lead to a loss of Csf3r protein function.
W356S missense unknown CSF3R W356S lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). W356S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
N610Q missense gain of function CSF3R N610Q lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N610Q results in increased Stat3 phosphorylation, promotes ligand-independent proliferation, and is transforming in culture (PMID: 30348809).
S581P missense unknown CSF3R S581P lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
V178M missense unknown CSF3R V178M lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). V178M has been identified in sequencing studies (PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A470T missense unknown CSF3R A470T lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). A470T has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G555R missense unknown CSF3R G555R lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). G555R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
P221L missense unknown CSF3R P221L lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). P221L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R440Q missense unknown CSF3R R440Q lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). R440Q has been identified in sequencing studies (PMID: 23774674), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
Q110* nonsense loss of function - predicted CSF3R Q110* results in a premature truncation of the Csf3r protein at amino acid 110 of 836 (UniProt.org). Due to the loss of the majority of the protein including the transmembrane domain (UniProt.org), Q110* is predicted to lead to a loss of Csf3r protein function.
inact mut unknown loss of function CSF3R inact mut indicates that this variant results in a loss of function of the Csf3r protein. However, the specific amino acid change has not been identified.
W791* nonsense gain of function CSF3R W791* results in a premature truncation of the Csf3r protein at amino acid 791 of 836 (UniProt.org). W791* results in reduced receptor internalization, increased Stat5 phosphorylation, and is transforming in cell culture (PMID: 28439110).
S669G missense unknown CSF3R S669G lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S669G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
L285F missense unknown CSF3R L285F lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). L285F has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
M199I missense unknown CSF3R M199I lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). M199I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S582F missense unknown CSF3R S582F lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S582F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S594G missense unknown CSF3R S594G lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S594G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T234I missense unknown CSF3R T234I lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). T234I has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E808K missense unknown CSF3R E808K lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E808K (also referred to as E785K) results in decreased colony formation compared to wild-type Csf3r in cultured cells, however, does not alter activation of Erk2, Mapk, Jnk, or Stat5, or cell differentiation (PMID: 15644419), and is not transforming in cell culture (PMID: 26475333), therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
Q75* nonsense loss of function - predicted CSF3R Q75* results in a premature truncation of the Csf3r protein at amino acid 75 of 836 (UniProt.org). Due to the loss of the majority of the protein including the transmembrane domain (UniProt.org), Q75* is predicted to lead to a loss of Csf3r protein function.
R484T missense unknown CSF3R R484T lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). R484T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G671C missense unknown CSF3R G671C lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G671C has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
N656S missense unknown CSF3R N656S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N656S has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
A520S missense unknown CSF3R A520S lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). A520S has been identified in sequencing studies (PMID: 24798001), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T615A missense gain of function - predicted CSF3R T615A lies within the extracellular domain proximal to the transmembrane domain of the Csf3r protein (PMID: 23656643). T615A is predicted to confer a gain of function to the Csf3r protein, as demonstrated by increased proliferation of transformed cells in culture (PMID: 23656643).
G757D missense unknown CSF3R G757D lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G757D has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
wild-type none no effect Wild-type CSF3R indicates that no mutation has been detected within the CSF3R gene.
P675S missense unknown CSF3R P675S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P675S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S651N missense unknown CSF3R S651N lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S651N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E553K missense unknown CSF3R E553K lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). E553K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
D702G missense unknown CSF3R D702G lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). D702G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E363D missense unknown CSF3R E363D lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E363D has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G147_P148insR insertion unknown CSF3R G147_P148insR results in the insertion of an arginine (R) in the Fibronectin type-III domain 1 of the Csf3r protein between amino acids 147 and 148 (UniProt.org). G147_P148insR has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
L62Q missense unknown CSF3R L62Q lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). L62Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S79F missense unknown CSF3R S79F lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). S79F has been identified in sequencing studies (PMID: 26758680), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R190H missense unknown CSF3R R190H lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). R190H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T137I missense unknown CSF3R T137I lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). T137I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
F156S missense unknown CSF3R F156S lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). F156S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S573F missense unknown CSF3R S573F lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S573F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R583L missense unknown CSF3R R583L lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). R583L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
T640N missense gain of function CSF3R T640N lies within the transmembrane domain of the Csf3r protein (UniProt.org). T640N results in transformation of cells, increased Jak-Stat activation, and tumor growth in mouse models (PMID: 26475333).
H588Y missense unknown CSF3R H588Y lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). H588Y has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
I494V missense unknown CSF3R I494V lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). I494V has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
N610H missense gain of function CSF3R N610H lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N610H results in increased Stat3 phosphorylation, promotes ligand-independent proliferation, and is transforming in culture (PMID: 30348809).
Y752* nonsense loss of function - predicted CSF3R Y752* results in a premature truncation of the Csf3r protein at amino acid 752 of 836 (UniProt.org). Y752* has not been biochemically characterized, but is predicted to result in a loss of Csf3r protein function based on the effects of other truncation mutations (PMID: 23656643).
G21R missense unknown CSF3R G21R lies within the signal peptide region of the Csf3r protein (UniProt.org). G21R has been identified in sequencing studies (PMID: 22722829), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R269C missense unknown CSF3R R269C lies within the Fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R269C has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S624L missense unknown CSF3R S624L lies within the extracellular domain of the Csf3r protein (UniProt.org). S624L has been identified in sequencing studies (PMID: 23303603), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
G487W missense unknown CSF3R G487W lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). G487W has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
N610S missense gain of function - predicted CSF3R N610S lies within the Fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N610S is transforming in cell culture (PMID: 30348809) and therefore, is predicted to lead to a gain of Csf3r protein function.
L768R missense unknown CSF3R L768R lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L768R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
N789S missense unknown CSF3R N789S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N789S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
Y196H missense unknown CSF3R Y196H lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Y196H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S783fs frameshift loss of function CSF3R S783fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 783 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). S783fs confers a loss of function to the Csf3r protein as demonstrated by increased proliferation and downstream signaling of transformed cells in culture (PMID: 23656643).
Q168H missense unknown CSF3R Q168H lies within the Fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Q168H has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
L23M missense unknown CSF3R L23M lies within the signal peptide region of the Csf3r protein (UniProt.org). L23M has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
D364Y missense unknown CSF3R D364Y lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). D364Y has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
act mut unknown gain of function CSF3R act mut indicates that this variant results in a gain of function in the Csf3r protein. However, the specific amino acid change has not been identified.
L685P missense unknown CSF3R L685P lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L685P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
E501K missense unknown CSF3R E501K lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E501K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
S473G missense unknown CSF3R S473G lies within the Fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). S473G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
R418H missense unknown CSF3R R418H lies within the Fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R418H has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2019).
Molecular Profile Protein Effect Treatment Approaches
CSF3R E700Q unknown
CSF3R W547R unknown
CSF3R R233W unknown
CSF3R mutant unknown
CSF3R Q793* gain of function
CSF3R P34L unknown
CSF3R E149Q unknown
CSF3R W202S unknown
CSF3R W279* loss of function - predicted
CSF3R V812F unknown
CSF3R A778V unknown
CSF3R L55Q unknown
CSF3R I598M unknown
CSF3R R428K unknown
CSF3R G539C unknown
CSF3R K180N unknown
CSF3R D510H unknown
CSF3R T618I gain of function JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor - ATP competitive JAK2 Inhibitor - ATP competitive
CSF3R Q197H unknown
CSF3R P782L unknown
CSF3R E405K unknown
CSF3R R769C unknown
CSF3R L595V unknown
CSF3R G415R unknown
CSF3R P467L unknown
CSF3R D320N unknown
CSF3R E254K unknown
CSF3R A602S unknown
CSF3R M601I unknown
CSF3R S374Y unknown
CSF3R G72R unknown
CSF3R R367W unknown
CSF3R W105R unknown
CSF3R E363V unknown
CSF3R S469Qfs*5 loss of function - predicted
CSF3R A124V unknown
CSF3R D236G unknown
CSF3R H436Mfs*12 loss of function - predicted
CSF3R K785E unknown
CSF3R M231V unknown
CSF3R T690M unknown
CSF3R G513E unknown
CSF3R N713K unknown
CSF3R R118P unknown
CSF3R T799S unknown
CSF3R D40N unknown
CSF3R P34S unknown
CSF3R T476I unknown
CSF3R A832V unknown
CSF3R Q741* loss of function - predicted SRC Inhibitor
CSF3R P527S unknown
CSF3R E331* loss of function - predicted
CSF3R A119T unknown
CSF3R A593T unknown
CSF3R S581F unknown
CSF3R I48N unknown
CSF3R C52G unknown
CSF3R D771fs loss of function - predicted
CSF3R G81R unknown
CSF3R M133I unknown
CSF3R P360L unknown
CSF3R Y121S unknown
CSF3R R274C unknown
CSF3R A383V unknown
CSF3R P20L unknown
CSF3R A208V unknown
CSF3R R343W unknown
CSF3R S469Afs*22 loss of function - predicted
CSF3R W356S unknown
CSF3R N610Q gain of function JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor - ATP competitive JAK2 Inhibitor - ATP competitive
CSF3R S581P unknown
CSF3R V178M unknown
CSF3R A470T unknown
CSF3R G555R unknown
CSF3R P221L unknown
CSF3R R440Q unknown
CSF3R Q110* loss of function - predicted
CSF3R inact mut loss of function SRC Inhibitor
CSF3R W791* gain of function
CSF3R S669G unknown
CSF3R L285F unknown
CSF3R M199I unknown
CSF3R S582F unknown
CSF3R S594G unknown
CSF3R T234I unknown
CSF3R E808K unknown
CSF3R Q75* loss of function - predicted
CSF3R R484T unknown
CSF3R G671C unknown
CSF3R N656S unknown
CSF3R A520S unknown
CSF3R T615A gain of function - predicted JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor - ATP competitive JAK2 Inhibitor - ATP competitive
CSF3R G757D unknown
CSF3R wild-type no effect
CSF3R P675S unknown
CSF3R S651N unknown
CSF3R E553K unknown
CSF3R D702G unknown
CSF3R E363D unknown
CSF3R G147_P148insR unknown
CSF3R L62Q unknown
CSF3R S79F unknown
CSF3R R190H unknown
CSF3R T137I unknown
CSF3R F156S unknown
CSF3R S573F unknown
CSF3R R583L unknown
CSF3R T640N gain of function JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor - ATP competitive JAK2 Inhibitor - ATP competitive
CSF3R H588Y unknown
CSF3R I494V unknown
CSF3R N610H gain of function JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor - ATP competitive JAK2 Inhibitor - ATP competitive
CSF3R Y752* loss of function - predicted SRC Inhibitor
CSF3R G21R unknown
CSF3R R269C unknown
CSF3R S624L unknown
CSF3R G487W unknown
CSF3R N610S gain of function - predicted JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor - ATP competitive JAK2 Inhibitor - ATP competitive
CSF3R L768R unknown
CSF3R N789S unknown
CSF3R Y196H unknown
CSF3R S783fs loss of function SRC Inhibitor
CSF3R Q168H unknown
CSF3R L23M unknown
CSF3R D364Y unknown
CSF3R act mut gain of function JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor - ATP competitive JAK2 Inhibitor - ATP competitive
CSF3R L685P unknown
CSF3R E501K unknown
CSF3R S473G unknown
CSF3R R418H unknown
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
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 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 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 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 T640N Advanced Solid Tumor sensitive Ruxolitinib Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) reduces colony formation of cells expressing CSF3R T640N in culture (PMID: 26475333). 26475333
CSF3R N610H Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed cells expressing CSF3R N610H in culture (PMID: 30348809). 30348809
CSF3R N610H Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of transformed cells expressing CSF3R N610H in culture (PMID: 30348809). 30348809
CSF3R N610S Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed cells expressing CSF3R N610S in culture (PMID: 30348809). 30348809
CSF3R N610S Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of transformed cells exxpressing CSF3R N610S in culture (PMID: 30348809). 30348809