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Gene Symbol PDGFRA
Synonyms CD140A | PDGFR-2 | PDGFR2
Gene Description PDGFRA, platelet-derived growth factor receptor alpha, is a receptor tyrosine kinase that activates PI3K/Akt, RAS/MAPK, and JAK/STAT pathways to promote cell proliferation and survival (PMID: 21605429). PDGFRA mutations have been detected in melanoma, AML, peripheral nerve sheath tumors, sarcoma, and neuroendocrine carcinomas (PMID: 23752188, PMID: 20685895), several fusions have also been reported (PMID: 22432087, PMID: 26276769), and amplification has been observed in glioblastoma (PMID: 23438035).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A529I missense unknown PDGFRA A529I lies within the transmembrane domain of the Pdgfra protein (UniProt.org). A529I results in increased cell proliferation and Pdgfra signaling, and decreased Akt signaling in culture when combined with PDGFRA V536E (PMID: 30253204), but has not been individually characterized and therefore, its effect on Pdgfra protein function is unknown.
act mut unknown gain of function PDGFRA act mut indicates that this variant results in a gain of function in the Pdgfra protein. However, the specific amino acid change has not been identified.
amp none no effect PDGFRA amplification indicates an increased number of copies of the PDGFRA gene. However, the mechanism causing the increase is unspecified.
C235R missense unknown PDGFRA C235R lies within the Ig-like C2-type domain 3 of the Pdgfra protein (UniProt.org). C235R has been identified in the scientific literature (PMID: 23970477), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
C235S missense unknown PDGFRA C235S lies within the Ig-like C2-type domain 3 of the Pdgfra protein (UniProt.org). C235S has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
C235Y missense unknown PDGFRA C235Y lies within the Ig-like C2-type domain 3 of the Pdgfra protein (Uniprot.org). C235Y has been identified in the scientific literature (PMID: 27582545), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
C450_K451insMIEWMI insertion gain of function PDGFRA C450_K451insMIEWMI results in the insertion of six amino acids in the Ig-like C2-type domain 5 of the Pdgfra protein between amino acids 450 and 451 (UniProt.org). C450_K451insMIEWMI results in constitutive phosphorylation of Pdgfra, activation of Akt signaling, and increased cell proliferation in culture (PMID: 23970477).
C456_N468del deletion gain of function PDGFRA C456_N468del results in the deletion of thirteen amino acids in the Ig-like C2-type domain 5 of the Pdgfra protein from amino acids 456 to 468 (UniProt.org). C456_N468del results in constitutive phosphorylation of Pdgfra, activation of Akt signaling, and increased cell proliferation in culture (PMID: 23970477).
C456_R481del deletion gain of function PDGFRA C456_R481del results in the deletion of twenty-six amino acids in the Ig-like C2-type domain 5 of the Pdgfra protein from amino acids 456 to 468 (UniProt.org). C456_R481del results in constitutive phosphorylation of Pdgfra, activation of Akt signaling, and increased cell proliferation in culture (PMID: 23970477).
D836N missense unknown PDGFRA D836N lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D836N has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
D842del deletion unknown PDGFRA D842del results in the deletion of an amino acid in the protein kinase domain of the Pdgfra protein at amino acid 842 (UniProt.org). D842del has been identified in the scientific literature (PMID: 26130666), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
D842F missense unknown PDGFRA D842F lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D842F has been identified in the scientific literature (PMID: 18657298), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
D842H missense no effect PDGFRA D842H lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D842H demonstrates autophosphorylation, Stat5 activation, and transforming ability similar to wild-type Pdgfra protein in cell culture (PMID: 20972453).
D842I missense gain of function - predicted PDGFRA D842I lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D842I is predicted to confer a gain of function to the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra (PMID: 22745105).
D842V missense gain of function PDGFRA D842V lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D842V results in ligand-independent phosphorylation of Pdgfra, activation of downstream signaling, and is transforming in culture (PMID: 22745105, PMID: 23752188, PMID: 29533785, PMID: 30253204) and confers resistance to PDGFRA inhibitors (PMID: 30389923, PMID: 18955458). Y
D842X missense unknown PDGFRA D842X indicates any amino acid change at codon 842 of the Pdgfra protein.
D842Y missense gain of function PDGFRA D842Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D842Y confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in culture (PMID: 15928335, PMID: 22745105).
D842_D846del deletion gain of function - predicted PDGFRA D842_D846del results in the deletion of five amino acids in the protein kinase domain of the Pdgfra protein from amino acids 842 to 846 (UniProt.org). D842_D846del has been identified in the scientific literature (PMID: 26130666), but has not been biochemically characterized, however, similar PDGFRA exon 18 deletions are activating (PMID: 12522257, PMID: 15928335) and therefore, is predicted to result in a gain of function.
D842_H845del deletion gain of function PDGFRA D842_H845del results in the deletion of four amino acids in the protein kinase domain of the Pdgfra protein from amino acids 842 to 845 (UniProt.org). D842_H845del confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 22745105, PMID: 12522257).
D842_I843delinsIM indel gain of function PDGFRA D842_I843delinsIM results in a deletion of two amino acids from aa 842 to 843 within the protein kinase domain of the Pdgfra protein, combined with the insertion of an isoleucine (I) and a methionine (M) at the same site (UniProt.org). D842_I843delinsIM confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 15928335, PMID: 22745105).
D842_M844del deletion gain of function - predicted PDGFRA D842_M844del results in the deletion of three amino acids in the protein kinase domain of the Pdgfra protein from amino acids 842 to 844 (UniProt.org). D842_M844del has been identified in the scientific literature (PMID: 24638008), but has not been biochemically characterized, however, similar PDGFRA exon 18 deletions are activating (PMID: 12522257, PMID: 15928335) and therefore, is predicted to result in a gain of function.
D846V missense unknown PDGFRA D846V lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D846V is associated with resistance to Gleevec (imatinib) (PMID: 16624552), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Mar 2020). Y
D846Y missense gain of function PDGFRA D846Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D846Y confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 15928335, PMID: 22745105).
D846_S847insTSD insertion unknown PDGFRA D846_S847insTSD results in the insertion of three amino acids in the protein kinase domain of the Pdgfra protein between amino acids 846 and 847 (UniProt.org). D846_S847insTSD has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
E1068K missense no effect - predicted PDGFRA E1068K lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). E1068K has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923).
E229V missense unknown PDGFRA E229V lies within the Ig-like C2-type domain 3 of the Pdgfra protein (UniProt.org). E229V has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
E252* nonsense loss of function - predicted PDGFRA E252* results in a premature truncation of the Pdgfra protein at amino acid 252 of 1089 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E252* is predicted to lead to a loss of Pdgfra protein function.
E301* nonsense loss of function - predicted PDGFRA E301* results in a premature truncation of the Pdgfra protein at amino acid 301 of 1089 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Pdgfra is predicted to lead to a loss of Pdgfra protein function.
E311_K312del deletion gain of function PDGFRA E311_K312del results in the deletion of two amino acids in the extracellular domain of the Pdgfra protein from amino acids 456 to 468 (UniProt.org). E311_K312del results in constitutive phosphorylation of Pdgfra, activation of Akt signaling, and increased cell proliferation in culture (PMID: 23970477).
E699D missense no effect - predicted PDGFRA E699D lies within the protein kinase domain of the Pdgfra protein (UniProt.org). E699D has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923).
E887D missense unknown PDGFRA E887D lies within the protein kinase domain of the Pdgfra protein (UniProt.org). E887D has been identified in sequencing studies (PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
E951* nonsense unknown PDGFRA E951* results in a premature truncation of the Pdgfra protein at amino acid 951 of 1089 (UniProt.org). E951* has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
exon18 unknown unknown PDGFRA exon 18 (amino acids 814-854) indicates an unspecified mutation has occurred in exon 18 of the PDGFRA gene.
F808L missense loss of function PDGFRA F808L lies within the protein kinase domain of the Pdgfra protein (UniProt.org). F808L confers a loss of function to the Pdgfra protein as indicated by a lack of phosphorylation and kinase activity (PMID: 23752188).
fusion fusion unknown PDGFRA fusion indicates a fusion of the PDGFRA gene, but the fusion partner is unknown.
G185E missense unknown PDGFRA G185E lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). G185E has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
G185R missense unknown PDGFRA G185R lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). G185R has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
G185W missense no effect - predicted PDGFRA G185W lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). G185W has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra (PMID: 29533785, PMID: 30389923).
G429R missense unknown PDGFRA G429R lies within the Ig-like C2-type domain 5 of the Pdgfra protein (UniProt.org). G429R has been identified in the scientific literature (PMID: 20071345), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
G51E missense unknown PDGFRA G51E lies within the Ig-like C2-type domain 1 of the Pdgfra protein (UniProt.org). G51E has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
G79D missense unknown PDGFRA G79D lies within the Ig-like C2-type domain 1 of the Pdgfra protein (UniProt.org). G79D has been identified in the scientific literature (PMID: 19755855), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
G829E missense no effect - predicted PDGFRA G829E lies within the protein kinase domain of the Pdgfra protein (UniProt.org). G829E has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra (PMID: 29533785, PMID: 30389923).
G829R missense no effect PDGFRA G829R lies within the protein kinase domain of the Pdgfra protein (UniProt.org). G829R results in similar activation to wild-type Pdgfra in a reporter assay, and does not result in cytokine-independent growth in culture (PMID: 23752188).
G838V missense unknown PDGFRA G838V lies within the protein kinase domain of the Pdgfra protein (UniProt.org). G838V has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
G853D missense gain of function - predicted PDGFRA G853D lies within the protein kinase domain of the Pdgfra protein (UniProt.org). G853D is predicted to confer a gain of function to the Pdgfra protein, as indicated by increased autophosphorylation of Pdgfra (PMID: 24132921).
H570Y missense unknown PDGFRA H570Y lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). H570Y has been identified in sequencing studies (PMID: 26010451, PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Apr 2020).
H650Q missense gain of function PDGFRA H650Q lies within the protein kinase domain of the Pdgfra protein (UniProt.org). H650Q results in constitutive activation of Pdgfra, is transforming in culture, and induces leukemia-like disease in animal models (PMID: 21224473).
H687Y missense unknown PDGFRA H687Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). H687Y has been identified as a secondary mutation potentially associated with drug resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020). Y
H845Y missense gain of function PDGFRA H845Y lies within the tyrosine kinase 2 domain of the Pdgfra protein (PMID: 24132921). H845Y results in increased Pdgfra autophosphorylation and is transforming in cell culture (PMID: 24132921).
H845_N848delinsP indel gain of function PDGFRA H845_N848delinsP results in a deletion of four amino acids from aa 845 to 848 within the protein kinase domain of the Pdgfra protein, combined with the insertion of a proline (P) at the same site (UniProt.org). H845_N848delinsP confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 12522257, PMID: 15928335, PMID: 22745105).
H920Y missense unknown PDGFRA H920Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). H920Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
I537D missense gain of function PDGFRA I537D lies within the transmembrane domain of the Pdgfra protein (UniProt.org). I537D results in increased phosphorylation of Stat5 and Akt, activation of Pdgfra signaling in a reporter assay, and is transforming in cell culture (PMID: 30253204).
I537E missense unknown PDGFRA I537E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). I537E results in a statistically nonsignificant increase of Pdgfra activation in a reporter assay, but demonstrates phosphorylation of Stat5 and Akt to similar levels of wild-type protein and does not promote proliferation in culture (PMID: 30253204), and therefore, its effect on Pdgfra protein function is unknown.
I537G missense no effect PDGFRA I537G lies within the transmembrane domain of the Pdgfra protein (UniProt.org). I537G results in phosphorylation of Stat5 and Akt, and activation of Pdgfra signaling to similar levels of wild-type protein, and does not promote proliferation in culture (PMID: 30253204).
I539E missense unknown PDGFRA I539E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). I539E results in a statistically nonsignificant increase of Pdgfra activation in a reporter assay, but demonstrates phosphorylation of Stat5 and Akt to similar levels of wild-type protein and does not promote proliferation in culture (PMID: 30253204), and therefore, its effect on Pdgfra protein function is unknown.
I540D missense unknown PDGFRA I540D lies within the transmembrane domain of the Pdgfra protein (UniProt.org). I540D combined with PDGFRA V536E results in decreased cell proliferation and Pdgfra signaling compared to the effects of V536E alone in cell culture (PMID: 30253204), but has not been individually characterized and therefore, its effect on Pdgfra protein function is unknown.
I540E missense unknown PDGFRA I540E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). I540E has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (Pubmed, Jul 2020).
I843del deletion gain of function PDGFRA I843del results in the deletion of one amino acid in the protein kinase domain of the Pdgfra protein (UniProt.org). I843del confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 22745105, PMID: 14645423).
I843_D846del deletion gain of function - predicted PDGFRA I843_D846del results in the deletion of four amino acids in the protein kinase domain of the Pdgfra protein from amino acids 843 to 846 (PMID: 15928335). I843_D846del (identical in amino acid sequence to D842_H845del) is predicted to confer a gain of function to the Pdgfra protein as demonstrated by ligand-independent phosphorylation of Pdgfra (PMID: 12522257).
I843_M844del deletion gain of function - predicted PDGFRA I843_M844del results in the deletion of two amino acids in the protein kinase domain of the Pdgfra protein between amino acids 843 to 844 (UniProt.org). I843_M844del has not been characterized, however, similar PDGFRA exon 18 deletions are activating (PMID: 15928335, PMID: 14645423) and therefore, is predicted to result in a gain of function.
inact mut unknown loss of function PDGFRA inact mut indicates that this variant results in a loss of function of the Pdgfra protein. However, the specific amino acid change has not been identified.
K627M missense unknown PDGFRA K627M lies within the protein kinase domain of the Pdgfra protein (UniProt.org). K627M has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2020).
L221F missense unknown PDGFRA L221F lies within the extracellular domain of the Pdgfra protein (UniProt.org). L221F has been identified in the scientific literature (PMID: 27449473, PMID: 22718859), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
L31F missense no effect - predicted PDGFRA L31F lies within the Ig-like C2-type domain 1 of the Pdgfra protein (UniProt.org). L31F has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pdgfra (PMID: 29533785).
L532E missense unknown PDGFRA L532E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). L532E results in a statistically nonsignificant increase of Pdgfra activation in a reporter assay, but demonstrates phosphorylation of Stat5 and Akt to similar levels of wild-type protein and does not promote proliferation in culture (PMID: 30253204), and therefore, its effect on Pdgfra protein function is unknown.
L534E missense unknown PDGFRA L534E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). L534E has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (Pubmed, Jul 2020).
L534G missense no effect PDGFRA L534G lies within the transmembrane domain of the Pdgfra protein (UniProt.org). L534G results in phosphorylation of Stat5 and Akt, and activation of Pdgfra signaling to similar levels of wild-type protein, and does not promote proliferation in culture (PMID: 30253204).
L535E missense unknown PDGFRA L535E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). L535E results in a statistically nonsignificant increase of Pdgfra activation in a reporter assay, but demonstrates phosphorylation of Stat5 and Akt to similar levels of wild-type protein and does not promote proliferation in culture (PMID: 30253204), and therefore, its effect on Pdgfra protein function is unknown
L819R missense unknown PDGFRA L819R lies within the protein kinase domain of the Pdgfra protein (UniProt.org). L819R has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
M844_S847del deletion gain of function - predicted PDGFRA M844_S847del results in the deletion of four amino acids within the protein kinase domain of the Pdgfra protein from amino acids 844 to 847 (UniProt.org). M844_S847del has been identified in sequencing studies (PMID: 18547963, PMID: 20470368), but has not been biochemically characterized, however, similar PDGFRA exon 18 deletions are activating (PMID: 12522257, PMID: 15928335) and therefore, is predicted to result in a gain of function.
mutant unknown unknown PDGFRA mutant indicates an unspecified mutation in the PDGFRA gene.
N659K missense gain of function PDGFRA N659K lies within the protein kinase domain of the Pdgfra protein (UniProt.org). N659K confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 15928335, PMID: 22745105).
N659S missense gain of function PDGFRA N659S lies within the protein kinase domain of the Pdgfra protein (UniProt.org). N659S results in constitutive phosphorylation of Pdgfra and Stat5, increased cell proliferation, and is transforming in cell culture (PMID: 21224473).
N659Y missense loss of function - predicted PDGFRA N659Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). N659Y has not been fully biochemically characterized, but has been associated with decreased response to sorafenib in the context of FIP1L1-PDGFRA in cell culture (PMID: 20972453).
N848K missense gain of function PDGFRA N848K lies within the protein kinase domain of the Pdgfra protein (UniProt.org). N848K confers a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 15928335, PMID: 22745105).
negative unknown loss of function PDGFRA negative indicates a lack of the PDGFRA gene, mRNA, and/or protein.
P345S missense gain of function - predicted PDGFRA P345S lies within the Ig-like C2-type domain 4 of the Pdgfra protein (UniProt.org). P345S has not been biochemically characterized, but in one of two cell lines, P345S increased cell proliferation and cell viability compared to wild-type Pdgfra (PMID: 29533785, PMID: 30389923).
P414L missense no effect - predicted PDGFRA P414L lies within the Ig-like C2-type domain 5 of the Pdgfra protein (UniProt.org). P414L has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923)).
P567L missense unknown PDGFRA P567L lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). P567L has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
P577S missense gain of function - predicted PDGFRA P577S lies within the juxtamembrane domain of the Pdgfra protein (PMID: 24132921). P577S is predicted to confer a gain of function to the Pdgfra protein as demonstrated by increased autophosphorylation of Pdgfra (PMID: 24132921).
P577T missense gain of function - predicted PDGFRA P577T lies within the juxtamembrane domain of the Pdgfra protein (PMID: 24132921). P577T has not been biochemically characterized, but is predicted to confer a gain of function on the Pdgfra protein as demonstrated by increased transformation ability in one of two cell lines in culture (PMID: 29533785, PMID: 30389923).
P6L missense unknown PDGFRA P6L lies within the signal peptide region of the Pdgfra protein (UniProt.org). P6L has been identified in the scientific literature (PMID: 30359545), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Apr 2020).
R1037K missense no effect - predicted PDGFRA R1037K lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). R1037K has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923).
R340Q missense no effect - predicted PDGFRA R340Q lies within the Ig-like C2-type domain 4 of the Pdgfra protein (UniProt.org). R340Q has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra (PMID: 29533785, PMID: 30389923).
R487L missense unknown PDGFRA R487L lies within the Ig-like C2-type domain 5 of the Pdgfra protein (UniProt.org). R487L has been identified in sequencing studies (PMID: 23592488), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Mar 2020).
R554_Y555del deletion unknown PDGFRA R554_Y555del results in the deletion of two amino acids in the juxtamembrane domain of the Pdgfra protein from amino acids 554 to 555 (PMID: 24132921). R554_Y555del has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
R558C missense no effect - predicted PDGFRA R558C lies within the juxtamembrane domain of the Pdgfra protein (PMID: 24132921). R558C has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pdgfra (PMID: 29533785).
R560_S564del deletion unknown PDGFRA R560_S564del results in the deletion of five amino acids in the juxtamembrane domain of the Pdgfra protein from amino acids 560 to 564 (PMID: 24132921). R560_S564del has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
R560_V561insER insertion gain of function - predicted PDGFRA R560_V561insER results in the insertion of two amino acids in the cytoplasmic domain of the Pdgfra protein between amino acids 560 and 561 (UniProt.org). R560_V561insER is predicted to confer a gain of function on the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 22745105).
R748G missense gain of function PDGFRA R748G lies within the protein kinase domain of the Pdgfra protein (UniProt.org). R748G results in constitutive phosphorylation of Pdgfra and Stat5, is transforming in cell culture, and induces leukemia-like disease in animal models (PMID: 21224473).
R764C missense no effect - predicted PDGFRA R764C lies within the protein kinase domain of the Pdgfra protein (UniProt.org). R764C has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923).
R822H missense unknown PDGFRA R822H lies within the protein kinase domain of the Pdgfra protein (UniProt.org). R822H has been identified in the scientific literature (PMID: 27311873, PMID: 27178821), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
R841K missense gain of function - predicted PDGFRA R841K lies within the protein kinase domain of the Pdgfra protein (UniProt.org). R841K is predicted to confer a gain of function on the Pdgfra protein as demonstrated by increased autophosphorylation of Pdgfra (PMID: 24132921).
R841_D842del deletion unknown PDGFRA R841_D842del results in the deletion of two amino acids in the protein kinase domain of the Pdgfra protein from amino acids 841 to 842 (UniProt.org). R841_D842del has been identified in sequencing studies (PMID: 25157968), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
R841_D842delinsKI indel gain of function - predicted PDGFRA R841_D842delinsKI results in a deletion of two amino acids from aa 841 to 842 within the protein kinase domain of the Pdgfra protein, combined with the insertion of a lysine (K) and an isoleucine (I) at the same site (UniProt.org). R841_D842delinsKI is predicted to confer a gain of function on the Pdgfra protein as demonstrated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 15928335).
R914W missense unknown PDGFRA R914W lies within the protein kinase domain of the Pdgfra protein (UniProt.org). R914W has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
R979H missense unknown PDGFRA R979H lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). R979H has been identified in sequencing studies (PMID: 29106415, PMID: 28481359, PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Apr 2020).
rearrange unknown unknown PDGFRA rearrange indicates an unspecified rearrangement of the PDGFRA gene.
S308F missense no effect - predicted PDGFRA S308F does not lies within any known functional domains of the Pdgfra protein (UniProt.org). S308F has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923).
S478P missense no effect PDGFRA S478P lies within the extracellular domain and the Ig-like C2-type 5 domain of the Pdgfra protein (UniProt.org). S478P results in ligand-dependent phosphorylation (PMID: 12949711), and cell proliferation and viability levels similar to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923)
S541G missense unknown PDGFRA S541G lies within the transmembrane domain of the Pdgfra protein (UniProt.org). S541G combined with PDGFRA V536E results in decreased cell proliferation and Pdgfra signaling compared to the effects of V536E alone in cell culture (PMID: 30253204), but has not been individually characterized and therefore, its effect on Pdgfra protein function is unknown.
S566fs frameshift loss of function - predicted PDGFRA S566fs results in a change in the amino acid sequence of the Pdgfra protein beginning at 566 of 1089, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), S566fs is predicted to confer a loss of function to the Pdgfra protein.
S566_E571delinsR indel gain of function PDGFRA S566_E571delinsR results in a deletion of six amino acids from aa 566 to 571 within the cytoplasmic domain of the Pdgfra protein, combined with the insertion of an arginine (R) at the same site (UniProt.org). S566_E571delinsR confers a gain of function on the Pdgfra protein as demonstrated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 12522257, PMID: 15928335).
S847L missense no effect - predicted PDGFRA S847L lies within the protein kinase domain of the Pdgfra protein (UniProt.org). S847L has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pdgfra (PMID: 29533785).
T152A missense unknown PDGFRA T152A lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). T152A has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
T153A missense no effect - predicted PDGFRA T153A lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). T153A has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra (PMID: 29533785, PMID: 30389923).
T674I missense unknown PDGFRA T674I lies within the protein kinase domain of the Pdgfra protein (UniProt.org). T674I has been demonstrated to occur as a secondary resistance mutation in the context of FIP1L-PDGFRA (PMID: 12660384, PMID: 16754777), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Mar 2020). Y
V140L missense unknown PDGFRA V140L lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). V140L has been identified in the scientific literature (PMID: 20169295, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
V193I missense no effect - predicted PDGFRA V193I lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). V193I has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923).
V484M missense no effect - predicted PDGFRA V484M lies within the Ig-like C2-type domain 5 of the Pdgfra protein (UniProt.org). V484M has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Pdgfra in culture (PMID: 29533785, PMID: 30389923).
V527A missense unknown PDGFRA V527A lies within the extracellular domain of the Pdgfra protein (UniProt.org). V527A has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
V533E missense unknown PDGFRA V533E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). V533E results in activation of Pdgfra signaling in a reporter assay and increased phosphorylation of Akt, but demonstrates levels of Stat5 phosphorylation and cell proliferation comparable to wild-type Pdgfra in culture with intermediate effect in computational models (PMID: 30253204), and therefore, its effect on Pdgfra protein function is unknown (Pubmed, Jul 2020).
V536E missense gain of function PDGFRA V536E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). V536E results in constitutive activation of Pdgfra, increased phosphorylation of Stat5 and Akt, and is transforming in culture (PMID: 23752188, PMID: 30253204).
V538E missense unknown PDGFRA V538E lies within the transmembrane domain of the Pdgfra protein (UniProt.org). V538E results in a statistically nonsignificant increase of Pdgfra activation in a reporter assay, but demonstrates phosphorylation of Stat5 and Akt to similar levels of wild-type protein and does not promote proliferation in culture (PMID: 30253204), and therefore, its effect on Pdgfra protein function is unknown.
V544_L545insAVLVLLVIVIISLI insertion gain of function PDGFRA V544_L545insAVLVLLVIVIISLI results in the insertion of fourteen amino acids in the transmembrane domain of the Pdgfra protein between amino acids 544 and 545 (UniProt.org). V544_L545insAVLVLLVIVIISLI results in constitutive phosphorylation of Pdgfra, activation of Akt signaling, and increased cell proliferation in culture (PMID: 23970477).
V561A missense gain of function - predicted PDGFRA V561A lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). V561A is predicted to confer a gain of function on the Pdgfra protein as demonstrated by in increased phosphorylation of Pdgfra in cultured cells (PMID: 24132921).
V561D missense gain of function PDGFRA V561D lies within the juxtamembrane domain of the Pdgfra protein (PMID: 12949711). V561D confers a gain of function to the Pdgfra protein resulting in constitutive tyrosine phosphorylation in cell culture (PMID: 12949711) and demonstrates increased transformation ability in two different cell lines (PMID: 29533785).
V561_I562insER insertion gain of function PDGFRA V561_I562insER results in the insertion of two amino acids in the cytoplasmic domain of the Pdgfra protein between amino acids 561 and 562 (UniProt.org). V561_I562insER confers a gain of function on the Pdgfra protein as demonstrated by increased ligand-independent phosphorylation of Pdgfra in cell culture (PMID: 12522257, PMID: 15928335).
V626M missense unknown PDGFRA V626M lies within the protein kinase domain of the Pdgfra protein (UniProt.org). V626M has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2020).
V658A missense gain of function - predicted PDGFRA V658A lies within the protein kinase domain of the Pdgfra protein (UniProt.org). V658A is predicted to confer a gain of function on the Pdgfra protein as demonstrated by increased autophosphorylation of Pdgfra (PMID: 24132921).
W349C missense loss of function PDGFRA W349C lies within the Ig-like C2-type domain 4 of the Pdgfra protein (UniProt.org). W349C results in defective Pdgfra membrane trafficking, loss of ligand-dependent activation Pdgfra, and is not transforming in cell culture (PMID: 23752188).
W559_R560del deletion unknown PDGFRA W559_R560del results in the deletion of two amino acids in the cytoplasmic domain of the Pdgfra protein from amino acids 559 to 560 (UniProt.org). W559_R560del has been identified in the scientific literature (PMID: 26396737), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, May 2020).
wild-type none no effect Wild-type PDGFRA indicates that no mutation has been detected within the PDGFRA gene.
Y288C missense gain of function - predicted PDGFRA Y288C lies within the Ig-like C2-type domain 3 of the Pdgfra protein (UniProt.org). Y288C results in constitutive activation of Pdgfra and downstream signaling, and increased transformation and migration compared to wild-type PDGFRA in cell culture (PMID: 29533785, PMID: 30389923), and is associated with PDGFRA inhibitor resistance (PMID: 30389923).
Y375_K455del deletion gain of function PDGFRA Y375_K455del results in the deletion of eighty-one amino acids in the Ig-like C2-type domain 4 of the Pdgfra protein from amino acids 375 to 455 (UniProt.org). Y375_K455del results in constitutive phosphorylation of Pdgfra, promotes proliferation and transformation in cell culture, and induces tumor growth in animal models (PMID: 12569364).
Y555C missense gain of function - predicted PDGFRA Y555C lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). Y555C is predicted to confer a gain of function on the Pdgfra protein as demonstrated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 17087943).
Y849C missense gain of function - predicted PDGFRA Y849C lies within the protein kinase domain of the Pdgfra protein (UniProt.org). Y849C is predicted to confer a gain of function on the Pdgfra protein as demonstrated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 15928335).
Y849S missense gain of function PDGFRA Y849S lies within the protein kinase domain of the Pdgfra protein (UniProt.org). Y849S results in constitutive phosphorylation of Pdgfra and Stat5, increased cell proliferation, and is transforming in cell culture (PMID: 21224473).
Y98* nonsense loss of function - predicted PDGFRA Y98* results in a premature truncation of the Pdgfra protein at amino acid 98 of 1089 (UniProt.org). Due to the loss of a majority of the ligand-binding and protein kinase domains (UniProt.org), Y98* is predicted to confer a loss of function to the Pdgfra protein.
ETV6 - PDGFRA fusion gain of function - predicted ETV6-PDGFRA results from the fusion of ETV6 and PDGFRA (PMID: 17555450). ETV6-PDGFRA is responsive to Pdgfra inhibition and therefore, the fusion is predicted to result in a gain of function (PMID: 17555450).