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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
1441 1 1p34.3 NM_000760 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A119T missense loss of function CSF3R A119T lies within the extracellular domain of the Csf3r protein (UniProt.org). A119T leads to a loss of Csf3r protein function as demonstrated by decreased cytokine-induced proliferation and phosphorylation of Stat3 and Stat5 in culture (PMID: 33108454).
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, Feb 2024).
A208V missense unknown CSF3R A208V lies within 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, Feb 2024).
A383V missense unknown CSF3R A383V lies within 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, Feb 2024).
A470T missense unknown CSF3R A470T lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). A470T has been identified in sequencing studies (PMID: 28825054), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Apr 2024).
A520S missense unknown CSF3R A520S lies within 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, Feb 2024).
A593T missense unknown CSF3R A593T lies within 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, Feb 2024).
A602S missense unknown CSF3R A602S lies within 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, Feb 2024).
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, Feb 2024).
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, Feb 2024).
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.
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, Feb 2024).
D236G missense unknown CSF3R D236G lies within 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, Feb 2024).
D320N missense unknown CSF3R D320N lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). D320N has been identified in the scientific literature (PMID: 23774674, PMID: 30891028, PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Apr 2024).
D364Y missense unknown CSF3R D364Y lies within 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, Feb 2024).
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, Feb 2024).
D510H missense unknown CSF3R D510H lies within 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, Feb 2024).
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, Feb 2024).
D771fs frameshift gain of function 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 results in increased cell surface Csf3r expression, impaired receptor internalization, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 24403076, PMID: 28439110).
D810* nonsense unknown CSF3R D810* results in a premature truncation of the Csf3r protein at amino acid 810 of 836 (UniProt.org). D810* has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
E149D missense unknown CSF3R E149D lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149D has been identified in the scientific literature (PMID: 30891028), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
E149Q missense unknown CSF3R E149Q lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149Q has been identified in sequencing studies (Blood (2018) 132 (Supplement 1): 4389), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Apr 2024).
E254K missense unknown CSF3R E254K lies within 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, Feb 2024).
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.
E363D missense unknown CSF3R E363D lies within 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, Feb 2024).
E363V missense unknown CSF3R E363V lies within 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, Feb 2024).
E405K missense unknown CSF3R E405K lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E405K has been identified in the scientific literature (PMID: 30891028), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2024).
E501K missense unknown CSF3R E501K lies within 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, Feb 2024).
E524A missense gain of function - predicted CSF3R E524A lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524A results in G-CSF-independent cell growth and survival in culture (PMID: 29572350), and therefore, is predicted to lead to a gain of Csf3r protein function.
E524D missense no effect - predicted CSF3R E524D lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524D has not been biochemically characterized, but is not transforming in cell culture (PMID: 29572350), and therefore, is predicted to have no effect on Csf3r protein function.
E524G missense gain of function - predicted CSF3R E524G lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524G results in G-CSF-independent cell growth and survival in culture (PMID: 29572350), and therefore, is predicted to lead to a gain of Csf3r protein function.
E524K missense gain of function CSF3R E524K lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524K does not result in increased Stat5 and Erk activity, but confers a gain of function to the Csf3r protein as indicated by increased receptor internalization, Stat3 activation, and transformation in cultured cells (PMID: 29572350).
E524N missense gain of function - predicted CSF3R E524N lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524N results in G-CSF-independent cell growth and survival in culture (PMID: 29572350), and therefore, is predicted to lead to a gain of Csf3r protein function.
E553K missense unknown CSF3R E553K lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). E553K has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
E700* nonsense unknown CSF3R E700* results in a premature truncation of the Csf3r protein at amino acid 700 of 836 (UniProt.org). L700* results in increased Csf3r cell surface expression and impaired receptor internalization, however, leads to reduced Stat5 activation and G-CSF sensitivity compared to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, its effect on Csf3r protein function is unknown.
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, Feb 2024).
E808* nonsense gain of function CSF3R E808* results in a premature truncation of the Csf3r protein at amino acid 808 of 836 (UniProt.org). E808* results in increased cell surface Csf3r expression, impaired receptor degradation, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
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), and therefore, its effect on Csf3r protein function is unknown.
E831* nonsense no effect CSF3R E831* results in a premature truncation of the Csf3r protein at amino acid 831 of 836 (UniProt.org). E831* results in cell surface Csf3r expression, Stat5 activation, and receptor degradation similar to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function.
F156S missense unknown CSF3R F156S lies within 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, Feb 2024).
F792* nonsense gain of function CSF3R F792* results in a premature truncation of the Csf3r protein at amino acid 792 of 836 (UniProt.org). F792* results in increased cell surface Csf3r expression, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
F813* nonsense unknown CSF3R F813* results in a premature truncation of the Csf3r protein at amino acid 813 of 836 (UniProt.org). F813* has been identified in the sequencing studies (PMID: 34975010), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
G147_P148insR insertion unknown CSF3R G147_P148insR results in the insertion of an arginine (R) in 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, Feb 2024).
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, PMID: 35251624), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
G415R missense unknown CSF3R G415R lies within 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, Feb 2024).
G487W missense unknown CSF3R G487W lies within 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, Feb 2024).
G513E missense unknown CSF3R G513E lies within 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, Feb 2024).
G539C missense unknown CSF3R G539C lies within 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, Feb 2024).
G555R missense unknown CSF3R G555R lies within 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, Feb 2024).
G644E missense unknown CSF3R G644E lies within the transmembrane domain of the Csf3r protein (UniProt.org). G644E is not transforming in cell culture (PMID: 29572350), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown.
G671C missense unknown CSF3R G671C lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G671C has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
G687S missense unknown CSF3R G687S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G687S has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
G731R missense unknown CSF3R G731R lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G731R has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
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, Feb 2024).
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 and cytoplasmic domains (UniProt.org), H436Mfs*12 is predicted to lead to a loss of Csf3r protein function.
H588Y missense unknown CSF3R H588Y lies within 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, Feb 2024).
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, Feb 2024).
I494V missense unknown CSF3R I494V lies within 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, Feb 2024).
I598M missense unknown CSF3R I598M lies within 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, Feb 2024).
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.
K180N missense unknown CSF3R K180N lies within 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, Feb 2024).
K704A missense gain of function CSF3R K704A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K704A results in increased cell surface Csf3r expression, impaired receptor ubiquitination and degradation, elevated Stat5 activation, and transformation in cell culture (PMID: 28439110).
K705A missense no effect CSF3R K705A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K705A results in cell surface Csf3r expression, Stat5 activation, and receptor ubiquitination similar to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on 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, Feb 2024).
L219I missense unknown CSF3R L219I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). L219I has been identified in sequencing studies (PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
L285F missense unknown CSF3R L285F lies within 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, Feb 2024).
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, Feb 2024).
L595V missense unknown CSF3R L595V lies within 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, Feb 2024).
L619S missense unknown CSF3R L619S lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). L619S has been identified in sequencing studies (PMID: 33108454, PMID: 30385747), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
L670* nonsense loss of function - predicted CSF3R L670* results in a premature truncation of the Csf3r protein at amino acid 670 of 836 (UniProt.org). L670* results in increased Csf3r cell surface expression and impaired receptor internalization, however, does not demonstrate a response to G-CSF stimulation compared to wild-type in cultured cells (PMID: 28439110), and therefore, is predicted to lead to a loss of Csf3r protein function.
L685* nonsense loss of function - predicted CSF3R L685* results in a premature truncation of the Csf3r protein at amino acid 685 of 836 (UniProt.org). L685* results in increased Csf3r cell surface expression and impaired receptor internalization, however, is not transforming and does not demonstrate a response to G-CSF stimulation compared to wild-type in cell culture (PMID: 28439110), and therefore, is predicted to lead to a loss of Csf3r protein function.
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, Feb 2024).
L723V missense unknown CSF3R L723V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L723V has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
L776A missense gain of function CSF3R L776A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L776A results in increased cell surface Csf3r expression, impaired receptor internalization, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
L777A missense gain of function CSF3R L777A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L777A results in increased cell surface Csf3r expression, impaired receptor internalization, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
L790* nonsense gain of function CSF3R L790* results in a premature truncation of the Csf3r protein at amino acid 790 of 836 (UniProt.org). L790* results in increased cell surface Csf3r expression, impaired receptor internalization, hypersensitivity to G-CSF stimulation, and is transforming in cell culture (PMID: 28439110).
L816A missense no effect CSF3R L816A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L816A results in cell surface Csf3r expression similar to wild-type and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function.
M133I missense unknown CSF3R M133I lies within 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, Feb 2024).
M199I missense unknown CSF3R M199I lies within 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, Feb 2024).
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, Feb 2024).
M601I missense unknown CSF3R M601I lies within 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, Feb 2024).
mutant unknown unknown CSF3R mutant indicates an unspecified mutation in the CSF3R gene.
N579Y missense gain of function CSF3R N579Y lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N579Y confers a gain of function to Csf3r as demonstrated by cytokine-independent growth and increased Erk1/2 and Stat3 phosphorylation in cultured cells (PMID: 36579444).
N610H missense gain of function CSF3R N610H lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N610H confers a gain of function to the Csf3r protein as demonstrated by increased Stat3 phosphorylation and ligand independent cell growth in culture (PMID: 30348809).
N610Q missense gain of function CSF3R N610Q lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N610Q confers a gain of function to the Csf3r protein as demonstrated by increased Stat3 phosphorylation and ligand-independent cell growth in culture (PMID: 30348809).
N610S missense gain of function - predicted CSF3R N610S lies within 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.
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, Feb 2024).
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, Feb 2024).
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, Feb 2024).
N818* nonsense gain of function CSF3R N818* results in a premature truncation of the Csf3r protein at amino acid 818 of 836 (UniProt.org). N818* results in increased cell surface Csf3r expression, impaired receptor degradation, and is transforming in cell culture (PMID: 28439110).
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, Feb 2024).
P221L missense unknown CSF3R P221L lies within 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, Feb 2024).
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, Feb 2024).
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 2024).
P360L missense unknown CSF3R P360L lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). P360L has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
P467L missense unknown CSF3R P467L lies within 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, Feb 2024).
P527S missense unknown CSF3R P527S lies within 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, Feb 2024).
P621A missense unknown CSF3R P621A lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). P621A has been identified in the scientific literature (PMID: 29572350), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
P675S missense unknown CSF3R P675S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P675S has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
P782Hfs*8 frameshift unknown CSF3R P782Hfs*8 indicates a shift in the reading frame starting at amino acid 782 and terminating 8 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). P782Hfs*8 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
P784T missense gain of function CSF3R P784T lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P784T results in delayed internalization of Csf3r, leading to increased cell surface Csf3r localization, phosphorylation of Stat3 and Stat5, and proliferation in response to cytokine in culture (PMID: 33108454).
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 transmembrane and cytoplasmic domains (UniProt.org), Q110* is predicted to lead to a loss of Csf3r protein function.
Q168H missense unknown CSF3R Q168H lies within 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, Feb 2024).
Q170* nonsense loss of function - predicted CSF3R Q170* results in a premature truncation of the Csf3r protein at amino acid 170 of 836 (UniProt.org). Due to loss of the transmembrane and cytoplasmic domains (UniProt.org), Q170* is predicted to lead to a loss of Csf3r protein function.
Q197H missense unknown CSF3R Q197H lies within 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, Feb 2024).
Q739* nonsense unknown CSF3R Q739* results in a premature truncation of the Csf3r protein at amino acid 739 of 836 (UniProt.org). Q739* has been identified in the scientific literature (PMID: 25865944, PMID: 29932212, PMID: 36579444), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
Q741* nonsense gain of function 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).
Q749* nonsense unknown CSF3R Q749* results in a premature truncation of the Csf3r protein at amino acid 749 of 836 (UniProt.org). Q749* has been identified in sequencing studies (PMID: 30891028, PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Apr 2024).
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 transmembrane and cytoplasmic domains (UniProt.org), Q75* is predicted to lead to a loss of Csf3r protein function.
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, impaired receptor degradation, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
Q823* nonsense gain of function CSF3R Q823* results in a premature truncation of the Csf3r protein at amino acid 823 of 836 (UniProt.org). E823* results in impaired Csf3r receptor degradation, hypersensitivity to G-CSF stimulation, increased Stat5 phosphorylation, and is transforming in cell culture (PMID: 28439110).
Q823H missense no effect CSF3R Q823H lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). Q823H results in cell surface Csf3r expression similar to wild-type and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function.
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, Feb 2024).
R190H missense unknown CSF3R R190H lies within 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, Feb 2024).
R233W missense unknown CSF3R R233W lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R233W has been identified in sequencing studies (PMID: 29316426, PMID: 26857262), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jan 2024).
R269C missense unknown CSF3R R269C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R269C 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, Feb 2024).
R274C missense unknown CSF3R R274C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R274C has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
R308C missense loss of function CSF3R R308C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R308C confers a loss of function to the Csf3r protein as demonstrated by reduced cell surface expression and impaired downstream signaling (PMID: 24753537), and decreased cell viability (PMID: 28652245) in response to G-CSF stimulation in culture.
R343W missense unknown CSF3R R343W lies within 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, Feb 2024).
R367W missense unknown CSF3R R367W lies within 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, Feb 2024).
R418H missense unknown CSF3R R418H lies within 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, Feb 2024).
R428K missense unknown CSF3R R428K lies within 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, Feb 2024).
R440Q missense unknown CSF3R R440Q lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). R440Q has been identified in the scientific literature (PMID: 23774674, PMID: 36741006), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
R484T missense unknown CSF3R R484T lies within 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, Feb 2024).
R583H missense no effect - predicted CSF3R R583H lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). R583H results in proliferation in response to cytokine similar to wild-type protein in culture (PMID: 33108454), and therefore, is predicted to have no effect on Csf3r protein function.
R583L missense unknown CSF3R R583L lies within 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, Feb 2024).
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, Feb 2024).
S374Y missense unknown CSF3R S374Y lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S374Y has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
S413L missense unknown CSF3R S413L lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S413L has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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 and cytoplasmic domains (UniProt.org), S469Afs*22 is predicted to lead to a loss of Csf3r protein function.
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 and cytoplasmic domains (UniProt.org), S469Qfs*5 is predicted to lead to a loss of Csf3r protein function.
S473G missense unknown CSF3R S473G lies within 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, Feb 2024).
S557G missense unknown CSF3R S557G lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S557G has been identified in the scientific literature (PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
S573F missense unknown CSF3R S573F lies within 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, Feb 2024).
S581C missense gain of function CSF3R S581C lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581C confers a gain of function to the Csf3r protein as demonstrated by increased receptor dimerization and is transforming in cell culture (PMID: 29572350).
S581F missense unknown CSF3R S581F lies within 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, Feb 2024).
S581P missense unknown CSF3R S581P lies within 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, Feb 2024).
S581R missense no effect - predicted CSF3R S581R lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581R has not been biochemically characterized, but is not transforming in cell culture (PMID: 29572350), and therefore, is predicted to have no effect on Csf3r protein function.
S582F missense unknown CSF3R S582F lies within 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, Feb 2024).
S594G missense unknown CSF3R S594G lies within 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, Feb 2024).
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, PMID: 34975010), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
S651N missense unknown CSF3R S651N lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S651N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
S661N missense unknown CSF3R S661N lies within the box 1 motif of the Csf3r protein (UniProt.org). S661N has been identified in the scientific literature (PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
S715* nonsense no effect - predicted CSF3R S715* results in a premature truncation of the Csf3r protein at amino acid 715 of 836 (UniProt.org). S715* has not been biochemically characterized, but is not transforming in cell culture (PMID: 28439110), and therefore, is predicted to have no effect on Csf3r protein function.
S772A missense gain of function CSF3R S772A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S772A results in increased cell surface Csf3r expression, impaired receptor internalization, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
S783fs frameshift gain of function - predicted 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 does not result in increased Stat3 activation (PMID: 23656643, PMID: 24403076), however, results in increased Src activation and transformation in cell culture (PMID: 23656643), and therefore, is predicted to lead to a gain of Csf3r protein function.
S783Kfs*6 frameshift gain of function - predicted CSF3R S783Kfs*6 indicates a shift in the reading frame starting at amino acid 783 and terminating 6 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S783Kfs*6 has not been characterized, but is predicted to lead to a gain of Csf3r protein function based on the effects of a similar frameshift mutation at S783 (PMID: 23656643).
S783Qfs*6 frameshift gain of function - predicted CSF3R S783Qfs*6 indicates a shift in the reading frame starting at amino acid 783 and terminating 6 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S783Qfs*6 has not been characterized, but is predicted to lead to a gain of Csf3r protein function based on the effects of a similar frameshift mutation at S783 (PMID: 23656643).
S786Lfs*2 frameshift unknown CSF3R S786Lfs*2 indicates a shift in the reading frame starting at amino acid 786 and terminating 2 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S786Lfs*2 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
T137I missense unknown CSF3R T137I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). T137I has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
T154I missense unknown CSF3R T154I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). T154I has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
T234I missense unknown CSF3R T234I lies within 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, Feb 2024).
T476I missense unknown CSF3R T476I lies within 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, Feb 2024).
T612A missense gain of function CSF3R T612A lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). T612A results in cytokine-independent cell growth and increased ligand-dependent phosphorylation of Stat3 and Erk compared to wild-type Csf3r in culture (PMID: 29572350).
T612I missense gain of function CSF3R T612I lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). T612I results in cytokine-independent cell growth and increased ligand-dependent phosphorylation of Stat3 and Erk compared to wild-type Csf3r in culture (PMID: 29572350).
T615A missense gain of function CSF3R T615A lies within fibronectin type-III domain 5 of the Csf3r protein (PMID: 23656643). T615A confers a gain of function to the Csf3r protein as demonstrated by increased Stat3 phosphorylation and decreased O-linked glycosylation in cultured cells (PMID: 24403076) and transformation in cultured cells (PMID: 23656643, PMID: 24403076).
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 (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).
T640I missense no effect - predicted CSF3R T640I lies within the transmembrane domain of the Csf3r protein (UniProt.org). T640I results in cytokine-induced proliferation similar to wild-type protein (PMID: 33108454) and is not transforming in cell culture (PMID: 29572350), and therefore, is predicted to have no effect on Csf3r protein function.
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).
T690M missense unknown CSF3R T690M lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T690M has been identified in sequencing studies (PMID: 27070704), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
T738* nonsense gain of function - predicted CSF3R T738* results in a premature truncation of the Csf3r protein at amino acid 738 of 836 (UniProt.org). T738* results in increased colony formation and Stat5 activation in response to G-CSF in culture (PMID: 28439110), and therefore, is predicted to lead to a gain of Csf3r protein function.
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, Feb 2024).
V178M missense unknown CSF3R V178M lies within 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, Feb 2024).
V406fs frameshift loss of function - predicted CSF3R V406fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 406 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). Due to loss of the transmembrane and cytoplasmic domains (UniProt.org), V406fs is predicted to lead to a loss of Csf3r protein function.
V728* nonsense unknown CSF3R V728* results in a premature truncation of the Csf3r protein at amino acid 728 of 836 (UniProt.org). V728* results in increased Csf3r cell surface expression and impaired receptor internalization, however, leads to reduced Stat5 activation and G-CSF sensitivity compared to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, its effect on Csf3r protein function is unknown.
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, Feb 2024).
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, Feb 2024).
W202S missense unknown CSF3R W202S lies within 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, Feb 2024).
W279* nonsense loss of function - predicted CSF3R W279* results in a premature truncation of the Csf3r protein at amino acid 279 of 836 (UniProt.org). Due to the loss of the transmembrane and cytoplasmic domains (UniProt.org), W279* is predicted to lead to a loss of Csf3r protein function.
W341C missense gain of function CSF3R W341C lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). W341C confers a gain of function to the Csf3r protein as demonstrated by increased receptor dimerization, elevated Stat5, Jak2 and Erk activation, and transformation in cultured cells (PMID: 28652245).
W356S missense unknown CSF3R W356S lies within 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, Feb 2024).
W547* nonsense loss of function CSF3R W547* results in a premature truncation of the Csf3r protein at amino acid 547 of 836 (UniProt.org). W547* results in decreased Csf3r expression in patient cells, absence of cell surface Csf3r expression, and failure to respond to cytokine-induced proliferation in culture (PMID: 33108454).
W547R missense unknown CSF3R W547R lies within 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, Feb 2024).
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 increased cell surface Csf3r expression, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
wild-type none no effect Wild-type CSF3R indicates that no mutation has been detected within the CSF3R gene.
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, Feb 2024).
Y196H missense unknown CSF3R Y196H lies within 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, Feb 2024).
Y752* nonsense unknown CSF3R Y752* results in a premature truncation of the Csf3r protein at amino acid 752 of 836 (UniProt.org). Y752* has been identified in the scientific literature (PMID: 23656643), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).