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Gene Symbol CSF1R
Synonyms BANDDOS | C-FMS | CD115 | CSF-1R | CSFR | FIM2 | FMS | HDLS | M-CSF-R
Gene Description CSF1R, macrophage colony-stimulating factor 1 receptor, is a tyrosine kinase and receptor for CSF1 and IL34, which upon ligand binding activates PI3K-AKT-mTOR, RAS-RAF-MEK-ERK and STAT signaling pathways (PMID: 22186992). CSF1R is expressed by tumor-associated macrophages to induce tumor promotion (PMID: 30065206) and therefore, a number of therapies to block Csf1r are under development (PMID: 28716061).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A123T missense unknown CSF1R A123T lies within the Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). A123T has been identified in sequencing studies (PMID: 24997986, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
A226V missense unknown CSF1R A226V lies within the Ig-like C2-type domain 3 of the Csfr1 protein (UniProt.org). A226V has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
A245S missense unknown CSF1R A245S lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). A245S has been identified in sequencing studies (PMID: 23649896), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
A273S missense unknown CSF1R A273S lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). A273S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
A527T missense unknown CSF1R A527T lies within the transmembrane domain of the Csf1r protein (UniProt.org). A527T has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
A767V missense unknown CSF1R A767V lies within the protein kinase domain of the Csf1r protein (UniProt.org). A767V has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
A781G missense unknown CSF1R A781G lies within the protein kinase domain of the Csf1r protein (UniProt.org). A781G has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
A960T missense unknown CSF1R A960T lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). A960T has been identified in sequencing studies (PMID: 26010451, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
A96T missense unknown CSF1R A96T lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). A96T has been identified in sequencing studies (PMID: 29872864, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
act mut unknown gain of function CSF1R act mut indicates that this variant results in a gain of function in the Csf1r protein. However, the specific amino acid change has not been identified.
amp none no effect CSF1R amplification indicates an increased number of copies of the CSF1R gene. However, the mechanism causing the increase is unspecified.
C224S missense unknown CSF1R C224S lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). C224S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
D802V missense gain of function CSF1R D802V lies within the protein kinase domain of the Csf1r protein (UniProt.org). D802V confers a gain of function as demonstrated by increased stability of the Csf1r protein and the ability to transform cells in cultrue (PMID: 10340379, PMID: 18971950).
D837H missense unknown CSF1R D837H lies within the protein kinase domain of the Csf1r protein (UniProt.org). D837H has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
D837N missense unknown CSF1R D837N lies within the protein kinase domain of the Csf1r protein (UniProt.org). D837N has been identified in sequencing studies (PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
E475Q missense unknown CSF1R E475Q lies within Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). E475Q has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
E49K missense unknown CSF1R E49K lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). E49K has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
E557D missense unknown CSF1R E557D lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). E557D has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
E920D missense unknown CSF1R E920D lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). E920D has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
F737L missense unknown CSF1R F737L lies within the protein kinase domain of the Csf1r protein (UniProt.org). F737L has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
G340V missense unknown CSF1R G340V lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). G340V has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
G413S missense unknown CSF1R G413S lies within the Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). G413S has been identified in sequencing studies (PMID: 29681454, PMID: 25957691, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
G690S missense unknown CSF1R G690S lies within the protein kinase domain of the Csf1r protein (UniProt.org). G690S has been identified in sequencing studies (PMID: 27499925), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
H345P missense unknown CSF1R H345P lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). H345P has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
H362R missense gain of function - predicted CSF1R H362R lies within the extracellular domain of the Csf1r protein (UniProt.org). H362R is predicted to increase Csf1r binding to CSF in a homology-based model, and increases phosphorylation of JNK in cell culture (PMID: 25144241).
H506Q missense unknown CSF1R H506Q lies within the extracellular domain of the Csf1r protein (UniProt.org). H506Q has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2019).
H506Y missense unknown CSF1R H506Y lies within the extracellular domain of the Csf1r protein (UniProt.org). H506Y has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
I794T missense unknown CSF1R I794T lies within the protein kinase domain of the Csf1r protein (UniProt.org). I794T has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Sep 2019).
K543M missense unknown CSF1R K543M lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). K543M has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
L301F missense unknown CSF1R L301F lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L301F has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Sep 2019).
L301S missense gain of function CSF1R L301S lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L301S results in a gain of function in Csf1r, demonstrating constitutive kinase activity, transforming activity in cultured cells (PMID: 2157180), and tumorigenicity in nude mice (PMID: 2974321).
L303V missense unknown CSF1R L303V lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L303V has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
L309P missense unknown CSF1R L309P lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L309P has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
mutant unknown unknown CSF1R mutant indicates an unspecified mutation in the CSF1R gene.
N255I missense unknown CSF1R N255I lies within the Ig-like C2-type domain 3 of the Csfr1 protein (UniProt.org). N255I has been identified in the scientific literature (PMID: 29531323), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
N302H missense unknown CSF1R N302H lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). N302H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
over exp none no effect CSF1R over exp indicates an over expression of the Csf1r protein. However, the mechanism causing the over expression is unspecified.
P104T missense unknown CSF1R P104T lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P104T has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P28S missense unknown CSF1R P28S lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P28S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P510L missense unknown CSF1R P510L lies within the extracellular domain of the Csf1r protein (UniProt.org). P510L has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P566L missense unknown CSF1R P566L lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). P566L has been identified in sequencing studies (PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P56H missense unknown CSF1R P56H lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P56H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P56R missense unknown CSF1R P56R lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P56R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P855L missense unknown CSF1R P855L lies within the protein kinase domain of the Csf1r protein (UniProt.org). P855L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P901S missense unknown CSF1R P901S lies within the protein kinase domain of the Csf1r protein (UniProt.org). P901S has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
P966L missense unknown CSF1R P966L lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). P966L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
positive unknown unknown CSF1R positive indicates the presence of the CSF1R gene, mRNA, and/or protein.
Q448H missense unknown CSF1R Q448H lies within the Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). Q448H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
Q877K missense unknown CSF1R Q877K lies within the protein kinase domain of the Csf1r protein (UniProt.org). Q877K has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Sep 2019).
R144C missense unknown CSF1R R144C lies within the Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). R144C has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R144H missense unknown CSF1R R144H lies within the Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). R144H has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R256C missense unknown CSF1R R256C lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). R256C has been identified in sequencing studies (PMID: 28481359, PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R294Q missense unknown CSF1R R294Q lies within the extracellular domain of the Csf1r protein (UniProt.org). R294Q has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R370C missense unknown CSF1R R370C lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). R370C has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R370H missense unknown CSF1R R370H lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). R370H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R41Q missense unknown CSF1R R41Q lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). R41Q has not been characterized in the scientific literature and therefore, its effect on R41Q protein function is unknown (PubMed, Nov 2019).
R549C missense unknown CSF1R R549C lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). R549C has been identified in sequencing studies (PMID: 25583476), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R710H missense unknown CSF1R R710H lies within the protein kinase domain of the Csf1r protein (UniProt.org). R710H has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
R753L missense unknown CSF1R R753L lies within the protein kinase domain of the Csf1r protein (UniProt.org). R753L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
rearrange unknown unknown CSF1R rearrange indicates an unspecified rearrangement of the CSF1R gene.
S250F missense unknown CSF1R S250F lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). S250F has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
T37M missense unknown CSF1R T37M lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). T37M has been identified in sequencing studies (PMID: 27499925), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
T663I missense unknown CSF1R T663I lies within the protein kinase domain of the Csf1r protein (UniProt.org). T663I has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
V138D missense unknown CSF1R V138D lies within Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). V138D has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
V279M missense unknown CSF1R V279M lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). V279M has been identified in sequencing studies (PMID: 23103869), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
V315L missense unknown CSF1R V315L lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). V315L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
V325M missense unknown CSF1R V325M lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). V325M has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
V38M missense unknown CSF1R V38M lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). V38M has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
V613M missense unknown CSF1R V613M lies within the protein kinase domain of the Csf1r protein (UniProt.org). V613M has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
W450_E456del deletion gain of function CSF1R W450_E456del results in a deletion of seven amino acids within the Ig-like C2 type domain 5 of the Csf1r protein (UniProt.org). W450_E456del confers a gain of function to the Csf1r protein, resulting in cytokine-independent cell growth and increased Mek/Erk signaling in culture (PMID: 31768065).
W575* nonsense loss of function - predicted CSF1R W575* results in a premature truncation of the Csf1r protein at amino acid 575 of 972 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W575* is predicted to lead to a loss of Csf1r protein function.
wild-type none no effect Wild-type CSF1R indicates that no mutation has been detected within the CSF1R gene.
Y360C missense unknown CSF1R Y360C lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). Y360C has been identified in sequencing studies (PMID: 22810696, PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
Y540S missense unknown CSF1R Y540S lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y540S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
Y546_K551del deletion gain of function CSF1R Y546_K551del results in the deletion of six amino acids in the regulatory juxtamembrane domain of the Csf1r protein from amino acids 546 to 551 (UniProt.org). Y546_K551del confers a gain of function to the Csf1r protein, as it leads to increased Mek/Erk signaling in vitro and increased cytokine-independent cell growth in culture (PMID: 31768065).
Y561_I564del deletion unknown CSF1R Y561_I564del results in the deletion of four amino acids in the regulatory juxtamembrane domain of the Csf1r protein from amino acids 546 to 551 (UniProt.org). Y561_I564del has been identified in the scientific literature (PMID: 31768065), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Feb 2020).
Y571D missense gain of function CSF1R Y571D lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). Y571D was shown to result in constitutive activation of the Csf1r protein, increased colony growth, and elevated Csf1r signaling in cultured cells (PMID: 18971950).
Y61H missense unknown CSF1R Y61H lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). Y61H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
Y969* nonsense unknown CSF1R Y969* results in a premature truncation of the Csf1r protein at amino acid 969 of 972 (UniProt.org). Y969* has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
Y969C missense unknown CSF1R Y969C lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969C has been identified in the scientific literature (PMID: 2406720), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).
Y969F missense gain of function - predicted CSF1R Y969F lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969F has not been biochemically characterized, but results in increased transforming ability compared to wild-type Csf1r protein in cell culture (PMID: 18971950) and therefore, is predicted to result in a gain of Csf1r protein function.
Y969H missense unknown CSF1R Y969H lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969H has been identified in the scientific literature (PMID: 2406720), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2019).