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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). | ||||||||||
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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). |