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Gene Symbol PDGFRB
Synonyms CD140B | IBGC4 | IMF1 | JTK12 | KOGS | PDGFR | PDGFR-1 | PDGFR1 | PENTT
Gene Description PDGFRB, platelet derived growth factor receptor beta, is a receptor tyrosine kinase that plays a role in blood vessel development, cell proliferation, migration (PMID: 18483217, PMID: 20529858), and lymphangiogenesis (PMID: 31949689). PDGFRB fusions are associated with several tumor types (PMID: 24703957) and commonly found in myeloid neoplasms (PMID: 31999327, PMID: 31161074), while overexpression has been observed in metastatic non-small cell lung cancer (PMID: 31949689, PMID: 31308421) and somatic mutations in myofibroma (PMID: 31017643).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5159 5 5q32 NM_002609 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1096V missense no effect - predicted PDGFRB A1096V lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). A1096V results in phosphorylation of Pdgfrb, Akt and Erk to similar levels of wild-type protein in culture (PMID: 24796542), and therefore, is predicted to have no effect on Pdgfrb protein function.
A168S missense unknown PDGFRB A168S lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). A168S has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
A398D missense unknown PDGFRB A398D lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). A398D has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
A403V missense unknown PDGFRB A403V lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). A403V has been identified in sequencing studies (PMID: 29141224), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
A537_I538delinsDN indel gain of function - predicted PDGFRB A537_I538delinsDN results in a deletion of two amino acids in the transmembrane domain of the Pdgfrb protein from amino acids 537 to 538, combined with the insertion of an aspartic acid (D) and an asparagine (N) at the same site (UniProt.org). A537_I538delinsDN leads to increased Pdgfrb activation as demonstrated by elevated Stat3 and Mapk activity in a reporter assay (PMID: 31017643), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
A6V missense unknown PDGFRB A6V lies within the signal peptide region of the Pdgfrb protein (UniProt.org). A6V has been identified in the scientific literature (PMID: 25336117), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
A789S missense unknown PDGFRB A789S lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). A789S has been identified in sequencing studies (PMID: 31747416, PMID: 38896179), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
A811T missense unknown PDGFRB A811T lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). A811T has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
A924T missense unknown PDGFRB A924T lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). A924T has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
act mut unknown gain of function PDGFRB act mut indicates that this variant results in a gain of function in the Pdgfrb protein. However, the specific amino acid change has not been identified.
amp none no effect PDGFRB amp indicates an increased number of copies of the PDGFRB gene. However, the mechanism causing the increase is unspecified.
C843G missense unknown PDGFRB C843G lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). C843G has been associated with secondary drug resistance in the context of AGGF1-PDGFRB (PMID: 29434033), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024). Y
C940Y missense unknown PDGFRB C940Y lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). C940Y has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
D153H missense unknown PDGFRB D153H lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). D153H has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
D590A missense unknown PDGFRB D590A lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). D590A has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jul 2024).
D844G missense loss of function PDGFRB D844G lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D844G confers a loss of function to Pdgfrb as demonstrated by a loss of Pdgfrb autophosphorylation in cultured cells (PMID: 31031011) and loss of enzymatic activity in a reporter assay (PMID: 34494111).
D844V missense unknown PDGFRB D844V lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D844V has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
D850E missense unknown PDGFRB D850E lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D850E results in increased kinase activity and has been shown to confer resistance to select PDGFR inhibitors in the context of NDEL1-PDGFRB in cultured cells (PMID: 27573554), but has not been individually characterized and therefore, its effect on Pdgfrb protein function is unknown. Y
D850N missense gain of function PDGFRB D850N lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D850N results in increased ligand-dependent phosphorylation of Pdgfrb and transforming activity in culture (PMID: 14996833).
D850V missense gain of function PDGFRB D850V lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D850V confers a gain of function to the Pdgfrb protein, as it results in constitutive activation of Pdgfrb as demonstrated in a reporter assay, increased phosphorylation of Akt and Stat1/3/5 in the absence of ligand, and transformation in cultured cells (PMID: 28334876).
D850Y missense gain of function - predicted PDGFRB D850Y lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). D850Y results in increased autophosphorylation of Pdgfrb in cultured cells (PMID: 31031011), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
dec exp none no effect PDGFRB dec exp indicates decreased expression of the Pdgfrb protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E1069K missense unknown PDGFRB E1069K lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). E1069K has been identified in sequencing studies (PMID: 33383577), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E1071V missense no effect PDGFRB E1071V lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). E1071V demonstrates MAPK and STAT activation similar to wild-type Pdgfrb in cultured cells (PMID: 25292412).
E133K missense unknown PDGFRB E133K lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). E133K has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E134G missense unknown PDGFRB E134G lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). E134G has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E253* nonsense loss of function - predicted PDGFRB E253* results in a premature truncation of the Pdgfrb protein at amino acid 253 of 1106 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E253* is predicted to lead to a loss of Pdgfrb protein function.
E364K missense unknown PDGFRB E364K lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). E364K has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E390K missense unknown PDGFRB E390K lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). E390K has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E485K missense unknown PDGFRB E485K lies within Ig-like C2-type domain 5 of the Pdgfrb protein (UniProt.org). E485K has been identified in sequencing studies (PMID: 27449473, PMID: 31085341), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E570A missense unknown PDGFRB E570A lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). E570A has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E594G missense unknown PDGFRB E594G lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). E594G has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E594K missense unknown PDGFRB E594K lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). E594K has been identified in sequencing studies (PMID: 25188413), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E651K missense unknown PDGFRB E651K lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). E651K has been identified in sequencing studies (PMID: 24265154), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
E946D missense unknown PDGFRB E946D lies within the protein kinase domain of the Pdgfrb protein (Uniprot.org). E946D has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
E97* nonsense loss of function - predicted PDGFRB E97* results in a premature truncation of the Pdgfrb protein at amino acid 97 of 1106 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E97* is predicted to lead to a loss of Pdgfrb protein function.
fusion fusion unknown PDGFRB fusion indicates a fusion of the PDGFRB gene, but the fusion partner is unknown.
G440D missense unknown PDGFRB G440D lies within Ig-like C2-type domain 5 of the Pdgfrb protein (UniProt.org). G440D has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
G687R missense unknown PDGFRB G687R lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). G687R has been identified in sequencing studies (PMID: 29925043, PMID: 29936259), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
G837C missense unknown PDGFRB G837C lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). G837C has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
G890E missense unknown PDGFRB G890E lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). G890E has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
H620L missense unknown PDGFRB H620L lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). H620L has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
H620Y missense unknown PDGFRB H620Y lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). H620Y has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
H657K missense unknown PDGFRB H657K lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). H657K results in increased kinase activity and has been shown to confer resistance to select PDGFR inhibitors in the context of NDEL1-PDGFRB in cultured cells (PMID: 27573554), but has not been individually characterized and therefore, its effect on Pdgfrb protein function is unknown. Y
I182M missense unknown PDGFRB I182M lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). I182M has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
I194T missense unknown PDGFRB I194T lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). I194T has been identified in sequencing studies (PMID: 26343384), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
I29F missense unknown PDGFRB I29F lies within the signal peptide region of the Pdgfrb protein (UniProt.org). I29F has been identified in sequencing studies (PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
I535_A540delinsVPSWP indel gain of function PDGFRB I535_A540delinsVPSWP results in a deletion of six amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 535 to 540, combined with the insertion of five amino acids at the same site (UniProt.org). I535_A540delinsVPSWP confers a gain of function to the Pdgfrb protein as indicated by constitutive phosphorylation of Pdgfrb and phosphorylation of Stat3 in cultured cells, and activation of the Stat and Mapk pathways in the absence of ligand in a reporter assay (PMID: 36201717).
I538_L539insR insertion gain of function PDGFRB I538_L539insR results in the insertion of an arginine (R) in the transmembrane domain of the Pdgfrb protein between amino acids 538 and 539 (UniProt.org). I538_L539insR confers a gain of function to the Pdgfrb protein as indicated by constitutive activation in a reporter assay, increased tyrosine phosphorylation and elevated phosphorylation of Akt and Stat3 in the absence of ligand, and transformation in cultured cells (PMID: 28334876).
inact mut unknown loss of function PDGFRB inact mut indicates that this variant results in a loss of function of the Pdgfrb protein. However, the specific amino acid change has not been identified.
K559_Y562delinsN indel unknown PDGFRB K559_Y562delinsN results in a deletion of four amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 559 to 562, combined with the insertion of an asparagine (N) at the same site (UniProt.org). K559_Y562delinsN has been identified in the scientific literature (PMID: 31017643), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
K634A missense loss of function PDGFRB K634A lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). K634A results in the loss of Pdgfrb kinase activity and defects in cytoskeletal reorganization (PMID: 2153283, PMID: 26599395), and demonstrates decreased ubiquitination following ligand binding compared to wild-type Pdgfrb in culture (PMID: 1313434).
L422V missense unknown PDGFRB L422V lies within Ig-like C2-type domain 5 of the Pdgfrb protein (UniProt.org). L422V has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
L52Q missense unknown PDGFRB L52Q lies within Ig-like C2-type domain 1 of the Pdgfrb protein (UniProt.org). L52Q has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
L658P missense loss of function PDGFRB L658P lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). L658P results in a loss of Pdgfrb phosphorylation and decreased downstream signaling in cultured cells (PMID: 25292412).
L954M missense unknown PDGFRB L954M lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). L954M has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
M852L missense unknown PDGFRB M852L lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). M852L has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
M937T missense unknown PDGFRB M937T lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). M937T has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
mutant unknown unknown PDGFRB mutant indicates an unspecified mutation in the PDGFRB gene.
N512K missense unknown PDGFRB N512K lies within Ig-like C2-type domain 5 of the Pdgfrb protein (UniProt.org). N512K has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
N666H missense gain of function PDGFRB N666H lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). N666H results in constitutive activation of Pdgfrb and is transforming in cell culture (PMID: 28726812).
N666K missense gain of function PDGFRB N666K lies within the protein kinase domain of the Pdgfrb protein (PMID: 26455322). N666K results in constitutive activation of Pdgfrb and is transforming in cell culture (PMID: 26455322).
N666S missense gain of function PDGFRB N666S lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). N666S confers a gain of function to the Pdgfrb protein as demonstrated by increased autophosphorylation, AKT signaling, and STAT-mediated transcription regulation in cell culture (PMID: 30573803).
negative unknown loss of function PDGFRB negative indicates a lack of the PDGFRB gene, mRNA, and/or protein.
over exp none no effect PDGFRB over exp indicates an over expression of the Pdgfrb protein. However, the mechanism causing the over expression is unknown.
P154S missense loss of function PDGFRB P154S lies within the Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). P154S confers a loss of function to the Pdgfrb protein as indicated by reduced cell surface expression, decreased signaling, and inability to bind ligand in cultured cells (PMID: 34494111).
P345S missense unknown PDGFRB P345S lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). P345S has been identified in sequencing studies (PMID: 31085178, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
P584R missense gain of function PDGFRB P584R lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). P584R confers a gain of function to Pdgfrb, as indicated by activation of downstream signaling, increased proliferation, and transformation of cultured cells (PMID: 26455322).
P660T missense unknown PDGFRB P660T lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). The functional effect of P660T is conflicting as it demonstrates activity similar to wild-type Pdgfrb and is not transforming in cultured cells in one study (PMID: 26455322) but results in constitutive phosphorylation of Pdgfrb and increased downstream signaling in cultured cells in another study (PMID: 33509954), and therefore, its effect on Pdgfrb protein function is unknown.
positive unknown unknown PDGFRB positive indicates the presence of the PDGFRB gene, mRNA, and/or protein.
R1098W missense unknown PDGFRB R1098W lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). R1098W has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
R113Q missense unknown PDGFRB R113Q lies within Ig-like C2-type domain 1 of the Pdgfrb protein (UniProt.org). R113Q has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
R150Q missense unknown PDGFRB R150Q lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). R150Q has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
R251C missense unknown PDGFRB R251C lies within Ig-like C2-type domain 3 of the Pdgfrb protein (UniProt.org). R251C has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
R251H missense unknown PDGFRB R251H lies within Ig-like C2-type domain 3 of the Pdgfrb protein (UniProt.org). R251H has been identified in sequencing studies (PMID: 24121792, PMID: 35962206), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
R2W missense unknown PDGFRB R2W lies within the signal peptide region of the Pdgfrb protein (UniProt.org). R2W has been identified in sequencing studies (PMID: 26934577), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
R332W missense unknown PDGFRB R332W lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). R332W has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Feb 2024).
R334W missense unknown PDGFRB R334W lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). R334W has been identified in sequencing studies (PMID: 26950094), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
R507H missense unknown PDGFRB R507H lies within Ig-like C2-type domain 5 of the Pdgfrb protein (UniProt.org). R507H has been identified in sequencing studies (PMID: 30404791, PMID: 31721781), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Feb 2024).
R561C missense gain of function PDGFRB R561C lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). R561C results in constitutive phosphorylation of Pdgfrb, activation of downstream signaling (PMID: 33509954, PMID: 26455322), and is transforming in cell culture (PMID: 26455322).
R561_Y562delinsH indel gain of function - predicted PDGFRB R561_Y562delinsH results in a deletion of two amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 561 to 562, combined with the insertion of a histidine (H) at the same site (UniProt.org). R561_Y562delinsH leads to increased Pdgfrb activation as demonstrated by elevated Stat3 and Mapk activity in a reporter assay (PMID: 31017643), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
R597Q missense unknown PDGFRB R597Q lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). R597Q has been identified in sequencing studies (PMID: 26168399, PMID: 29636988), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Feb 2024).
R695C missense loss of function PDGFRB R695C lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R695C results in decreased autophosphorylation of Pdgfrb in cultured cells (PMID: 24796542, PMID: 34494111) and decreased activity in a reporter assay (PMID: 34494111).
R695H missense unknown PDGFRB R695H lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R695H has been identified in the scientific literature (PMID: 28873240, PMID: 34454112), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
R708L missense unknown PDGFRB R708L lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R708L has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Feb 2024).
R849* nonsense unknown PDGFRB R849* results in a premature truncation of the Pdgfrb protein at amino acid 849 of 1106 (UniProt.org). R849* has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Feb 2024).
R849G missense unknown PDGFRB R849G lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R849G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
R849_K860delinsHAGLELHLQ indel gain of function - predicted PDGFRB R849_K860delinsHAGLELHLQ results in a deletion of 12 amino acids in the protein kinase domain of the Pdgfrb protein from amino acids 849 to 860, combined with the insertion of nine amino acids at the same site (UniProt.org). R849_K860delinsHAGLELHLQ results in increased autophosphorylation of Pdgfrb in cultured cells (PMID: 31031011), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
R853H missense unknown PDGFRB R853H lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R853H in the context of NDEL1-PDGFRB results in kinase activity similar to wild-type NDEL1-PDGFRB in cultured cells (PMID: 27573554), but has not been individually characterized and therefore, its effect on Pdgfrb protein function is unknown.
R853W missense unknown PDGFRB R853W lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R853W has been identified in the scientific literature (PMID: 35231161, PMID: 35260767), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Feb 2024).
R919W missense unknown PDGFRB R919W lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R919W has been identified in sequencing studies (PMID: 28548104), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Feb 2024).
R948W missense unknown PDGFRB R948W lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). R948W has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
R987W missense loss of function PDGFRB R987W lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). R987W results in increased Pdgfrb degradation, and decreased PLC-gamma and STAT3 activation, however, phosphorylation of Pdgfrb and activation of Akt is similar to wild-type Pdgfrb (PMID: 25292412).
R991C missense unknown PDGFRB R991C lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). R991C has been identified in sequencing studies (PMID: 24326041), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
rearrange unknown unknown PDGFRB rearrangement indicates an unspecified rearrangement of the PDGFRB gene.
S1041F missense unknown PDGFRB S1041F lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). S1041F has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
S274C missense unknown PDGFRB S274C lies within Ig-like C2-type domain 3 of the Pdgfrb protein (UniProt.org). S274C has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
S638T missense unknown PDGFRB S638T lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). S638T has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Apr 2024).
S650L missense unknown PDGFRB S650L lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). S650L has been identified in sequencing studies (PMID: 26689913), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
T369K missense unknown PDGFRB T369K lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). T369K has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
T369M missense unknown PDGFRB T369M lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). T369M has been identified in sequencing studies (PMID: 27149842, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
T618K missense unknown PDGFRB T618K lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). T618K has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
T681A missense gain of function - predicted PDGFRB T681A lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). T681A does not promote ligand-independent proliferation, but results in increased Pdgfrb autophosphorylation in culture (PMID: 18794843), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
T681I missense gain of function PDGFRB T681I lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). T681I results in increased Pdgfrb autophosphorylation and promotes ligand-independent proliferation in culture (PMID: 18794843), has been associated with secondary drug resistance in the context of a PDGFRB fusion (PMID: 33626861). Y
T681M missense gain of function PDGFRB T681M lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). T681M results in increased Pdgfrb autophosphorylation and promotes ligand-independent proliferation in culture (PMID: 18794843).
V158A missense unknown PDGFRB V158A lies within Ig-like C2-type domain 2 of the Pdgfrb protein (UniProt.org). V158A has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
V258L missense no effect - predicted PDGFRB V258L lies within Ig-like C2-type domain 3 of the Pdgfrb protein (UniProt.org). V258L results in Pdgfrb expression, phosphorylation of Erk, and subcellular localization similar to wild-type Pdgfrb in culture (PMID: 30761385), and therefore, is predicted to have no effect on Pdgfrb protein function.
V316M missense no effect - predicted PDGFRB V316M lies within the extracellular domain of the Pdgfrb protein (UniProt.org). V316M results in decreased Pdgfrb expression, but leads to Erk phosphorylation and subcellular localization similar to wild-type Pdgfrb (PMID: 30761385), and therefore, is predicted to have no effect on Pdgfrb protein function.
V506_R507insLLSV insertion unknown PDGFRB V506_R507insLLSV results in the insertion of four amino acids in the Ig-like C2-type domain 5 of the Pdgfrb protein between amino acids 506 and 507 (UniProt.org). V506_R507insLLSV has been identified in the scientific literature (PMID: 31017643), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
V523M missense unknown PDGFRB V523M lies within Ig-like C2-type domain 5 of the Pdgfrb protein (UniProt.org). V523M has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
V810M missense unknown PDGFRB V810M lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). V810M has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
V823I missense unknown PDGFRB V823I lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). V823I has been identified in sequencing studies (PMID: 19734198, PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
V84M missense unknown PDGFRB V84M lies within Ig-like C2-type domain 1 of the Pdgfrb protein (UniProt.org). V84M has been identified in sequencing studies (PMID: 30545397), but has not biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
V973G missense unknown PDGFRB V973G lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). V973G has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
W566G missense unknown PDGFRB W566G lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). W566G has been identified in the scientific literature (PMID: 31017643), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
W566L missense unknown PDGFRB W566L lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). W566L has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
W566R missense gain of function PDGFRB W566R lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). W566R confers a gain of function to the Pdgfrb protein as indicated by constitutive activation in a reporter assay, increased tyrosine phosphorylation and elevated phosphorylation of Akt and Stat1/3/5 in the absence of ligand, and transformation in cultured cells (PMID: 28334876).
W566_V568delinsL indel gain of function PDGFRB W566_V568delinsL results in a deletion of three amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 566 to 568, combined with the insertion of a leucine (L) at the same site (UniProt.org). W566_V568delinsL confers a gain of function to the Pdgfrb protein as indicated by constitutive activation in a reporter assay, increased tyrosine phosphorylation, and elevated phosphorylation of Akt and Stat3/5 in the absence of ligand, and transformation in cultured cells (PMID: 28334876).
W62* nonsense loss of function - predicted PDGFRB W62* results in a premature truncation of the Pdgfrb protein at amino acid 62 of 1106 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W62* is predicted to lead to a loss of Pdgfrb protein function.
wild-type none no effect Wild-type PDGFRB indicates that no mutation has been detected within the PDGFRB gene.
Y343S missense unknown PDGFRB Y343S lies within Ig-like C2-type domain 4 of the Pdgfrb protein (UniProt.org). Y343S has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).
Y562C missense gain of function PDGFRB Y562C lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). Y562C results in increased phosphorylation of Pdgfrb, Src, Akt, and Erk, and leads to eleveated Pdgfrb autophosphorylation and increased downstream signaling in the presence of growth factor in cultured cells (PMID: 31031011).
Y562D missense gain of function - predicted PDGFRB Y562D lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). Y562D leads to increased Pdgfrb activation as demonstrated by elevated Stat3 and Mapk activity in a reporter assay (PMID: 31017643), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
Y562_R565del deletion gain of function - predicted PDGFRB Y562_R565del results in the deletion of four amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 562 to 565 (UniProt.org). Y562_R565del results in increased autophosphorylation in cultured cells (PMID: 31031011), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
Y562_V572dup duplication gain of function - predicted PDGFRB Y562_V572dup indicates the insertion of 11 duplicate amino acids, tyrosine (Y)-562 through valine (V)-572, of the Pdgfrb protein (UniProt.org). Y562_V572dup leads to increased Pdgfrb activation as demonstrated by elevated Stat3 and Mapk activity in a reporter assay (PMID: 31017643), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
Y589D missense unknown PDGFRB Y589D lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). Y589D has been identified in the scientific literature (PMID: 31017643), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Jun 2024).
Y589H missense unknown PDGFRB Y589H lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). Y589H has been identified in sequencing studies (PMID: 20180814), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, May 2024).
Y778C missense unknown PDGFRB Y778C lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). Y778C has not been characterized in the scientific literature and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Aug 2024).