Gene Detail

Gene Symbol PDGFRA
Synonyms CD140A | PDGFR-2 | PDGFR2
Gene Description PDGFRA, platelet-derived growth factor receptor alpha, is a receptor tyrosine kinase, which 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).
Entrez Id 5156
Chromosome 4
Map Location 4q12
Canonical Transcript NM_006206

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
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, Jul 2018).
H920Y missense unknown PDGFRA H920Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). H920Y has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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 different cell lines (PMID: 29533785).
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, Jul 2018).
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).
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 as wild-type Pdgfra (PMID: 29533785).
D842V missense gain of function PDGFRA D842V lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D842V confers a gain of function to the Pdgfra protein resulting in transformation activity (PMID: 29533785) and phosphorylation of downstream targets (PMID: 23752188).
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).
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 as wild-type Pdgfra (PMID: 29533785).
rearrange unknown unknown PDGFRA rearrange indicates an unspecified rearrangement of the PDGFRA gene.
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).
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, Jul 2018).
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.
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.
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, Jul 2018).
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.
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), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018). Y
E887D missense unknown PDGFRA E887D lies within the protein kinase domain of the Pdgfra protein (UniProt.org). E887D has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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 as wild-type Pdgfra (PMID: 29533785).
E951* nonsense unknown PDGFRA E951* results in a premature truncation of the Pdgfra protein at amino acid 951 of 1089 (UniProt.org). E951* has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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 increase cell proliferation and cell viability as compared to wild-type Pdgfra (PMID: 29533785).
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 as wild-type Pdgfra (PMID: 29533785).
S566_E571delinsR indel gain of function - predicted 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 is predicted to confer a gain of function on the Pdgfra protein as demonstrated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 15928335).
D842X missense unknown PDGFRA D842X indicates any amino acid change at codon 842 of the Pdgfra protein.
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).
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 as wild-type Pdgfra (PMID: 29533785).
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).
mutant unknown unknown PDGFRA mutant indicates an unspecified mutation in the PDGFRA gene.
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, Jul 2018).
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).
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).
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.
R979H missense unknown PDGFRA R979H lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). R979H has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Aug 2018).
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).
amp none no effect PDGFRA amplification indicates an increased number of copies of the PDGFRA gene. However, the mechanism causing the increase is unspecified.
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.
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).
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).
V561_I562insER insertion gain of function - predicted 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 is predicted to confer a gain of function on the Pdgfra protein as demonstrated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 15928335).
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.
T152A missense unknown PDGFRA T152A lies within the Ig-like C2-type domain 2 of the Pdgfra protein (UniProt.org). T152A has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
Y288C missense gain of function - predicted PDGFRA Y288C lies within the Ig-like C2-type domain 3 of the Pdgfra protein (UniProt.org). Y288C 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 two different cell lines (PMID: 29533785).
D836N missense unknown PDGFRA D836N lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D836N has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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.
D842_H845del deletion gain of function - predicted 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 is predicted to confer a gain of function to the Pdgfra protein, as indicated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 12522257).
D846Y missense gain of function - predicted PDGFRA D846Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D846Y is predicted to confer a gain of function to the Pdgfra protein as indicated by increased ligand-independent phosphorylation of Pdgfra (PMID: 15928335).
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, Jul 2018).
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, Jul 2018).
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.
negative unknown loss of function PDGFRA negative indicates a lack of the PDGFRA gene, mRNA, and/or protein.
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).
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).
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, Jul 2018).
H845_N848delinsP indel gain of function - predicted 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 is predicted to confer a gain of function to the Pdgfra protein as demonstrated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 15928335).
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 of Pdgfra similar to wild-type Pdgfra (PMID: 12949711) and results in similar cell proliferation and viability levels as wild-type Pdgfra (PMID: 29533785).
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, Jul 2018).
H570Y unknown unknown PDGFRA H570Y lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). H570Y has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
G51E missense unknown PDGFRA G51E lies within the Ig-like C2-type domain 1 of the Pdgfra protein (UniProt.org). G51E has not been characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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).
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).
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 as wild-type Pdgfra (PMID: 29533785).
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 as wild-type Pdgfra (PMID: 29533785).
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, Jul 2018).
N848K missense gain of function - predicted PDGFRA N848K lies within the protein kinase domain of the Pdgfra protein (UniProt.org). N848K is predicted to confer a gain of function to the Pdgfra protein as demonstrated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 15928335).
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).
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 as wild-type Pdgfra (PMID: 29533785).
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).
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, Jul 2018).
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).
N659K missense gain of function - predicted PDGFRA N659K lies within the protein kinase domain of the Pdgfra protein (UniProt.org). N659K is predicted to confer a gain of function to the Pdgfra protein as demonstrated by ligand-independent phosphorylation of Pdgfra (PMID: 22745105)
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).
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).
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).
wild-type none no effect Wild-type PDGFRA indicates that no mutation has been detected within the PDGFRA gene.
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, Jul 2018).
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, Jul 2018).
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 as wild-type Pdgfra (PMID: 29533785).
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).
E1068K missense no effect - predicted PDGFRA E1068K lies within a serine rich region of the Pdgfra protein (UniProt.org). E1068K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pdgfra (PMID: 29533785).
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 and is potentially associated with drug resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018). Y
D842Y missense gain of function - predicted PDGFRA D842Y lies within the protein kinase domain of the Pdgfra protein (UniProt.org). D842Y is predicted to confer a gain of function to the Pdgfra protein, as indicated by increased ligand-independent phosphorylation of Pdgfra (PMID: 15928335).
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).
R1037K missense no effect - predicted PDGFRA R1037K lies within a serine rich region of the Pdgfra protein (UniProt.org). R1037K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pdgfra (PMID: 29533785).
D842_I843delinsIM indel gain of function - predicted 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 is predicted to confer a gain of function to the Pdgfra protein as indicated by constitutive phosphorylation of Pdgfra in cell culture (PMID: 15928335).
I843del deletion gain of function - predicted PDGFRA I843del results in the deletion of one amino acid in the protein kinase domain of the Pdgfra protein (UniProt.org). I843del is predicted to confer a gain of function to the Pdgfra protein as demonstrated by increased ligand-independent phosphorylation of Pdgfra (PMID: 14645423).
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).
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).
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), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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).
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, Jul 2018).
V536E missense gain of function PDGFRA V536E lies within the transmembrane of the Pdgfra protein (UniProt.org). V536E confers a gain of function to the Pdgfra protein resulting in constitutive activation of Pdgfr and cell proliferation in cultured cells (PMID: 23752188).
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.
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, Jul 2018).
P567L missense unknown PDGFRA P567L lies within the cytoplasmic domain of the Pdgfra protein (UniProt.org). P567L has not been characterized in the scientific literature and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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).
L221F missense unknown PDGFRA L221F lies within an extracellular domain of the Pdgfra protein (UniProt.org). L221F has been identified in the scientific literature (PMID: 22718859), but has not been biochemically characterized and therefore, its effect on Pdgfra protein function is unknown (PubMed, Jul 2018).
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).
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 as wild-type Pdgfra (PMID: 29533785).
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).
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, Jul 2018).
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.
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).
Molecular Profile Protein Effect Treatment Approaches
PDGFRA D846_S847insTSD unknown
PDGFRA H920Y unknown
PDGFRA P577T gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA R914W unknown
PDGFRA Y555C gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA G829E no effect - predicted
PDGFRA D842V PDGFRA V561D
PDGFRA D842V gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor Avapritinib
PDGFRA L31F no effect - predicted
PDGFRA R764C no effect - predicted
PDGFRA rearrange unknown
PDGFRA S847L no effect - predicted
PDGFRA W559_R560del unknown
PDGFRA E252* loss of function - predicted
PDGFRA D842_M844del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA G185R unknown
PDGFRA S566fs loss of function - predicted
PDGFRA T674I unknown
PDGFRA E887D unknown
PDGFRA S308F no effect - predicted
PDGFRA E951* unknown
PDGFRA P345S gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA V193I no effect - predicted
PDGFRA S566_E571delinsR gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA D842X unknown
PDGFRA W349C loss of function
PDGFRA E699D no effect - predicted
PDGFRA I843_D846del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA mutant unknown
CDKN2A mut MET del exon14 PDGFRA mut SMAD4 Q249H
PDGFRA R554_Y555del unknown
PDGFRA Y849S gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA G829R no effect
PDGFRA I843_M844del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA R979H unknown
PDGFRA E311_K312del gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA amp no effect PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA amp EGFR amp
ROS1 fusion KDR amp KIT amp PDGFRA amp
KIT amp PDGFRA amp
PDGFRA D842_D846del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA N659Y loss of function - predicted
PDGFRA R841K gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA V561_I562insER gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA M844_S847del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA T152A unknown
PDGFRA Y288C gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA D836N unknown
PDGFRA act mut gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA D842_H845del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA D846Y gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA L819R unknown
PDGFRA D842F unknown
PDGFRA E301* loss of function - predicted
PDGFRA negative loss of function
PDGFRA C450_K451insMIEWMI gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA V561A gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA G838V unknown
PDGFRA H845_N848delinsP gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA S478P no effect
PDGFRA V527A unknown
PDGFRA H570Y unknown
PDGFRA G51E unknown
PDGFRA R841_D842delinsKI gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA G853D gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA P414L no effect - predicted
PDGFRA R340Q no effect - predicted
PDGFRA G429R unknown
PDGFRA N848K gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA R748G gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA G185W no effect - predicted
PDGFRA Y375_K455del gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA R841_D842del unknown
PDGFRA Y849C gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA N659K gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA R558C no effect - predicted
PDGFRA H650Q gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA H845Y gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA wild-type no effect
PDGFRA G185E unknown
PDGFRA R560_S564del unknown
PDGFRA T153A no effect - predicted
PDGFRA D842H no effect
PDGFRA E1068K no effect - predicted
KIT A502_Y503dup PDGFRA H687Y
PDGFRA H687Y unknown
PDGFRA D842Y gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA D842I gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA R1037K no effect - predicted
PDGFRA D842_I843delinsIM gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA I843del gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA P577S gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA V544_L545insAVLVLLVIVIISLI gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA V140L unknown
PDGFRA N659S gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA D842del unknown
PDGFRA V536E gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA Y98* loss of function - predicted
PDGFRA R822H unknown
PDGFRA P567L unknown
PDGFRA C456_R481del gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA L221F unknown
PDGFRA C456_N468del gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA V484M no effect - predicted
PDGFRA V658A gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
PDGFRA G79D unknown
PDGFRA F808L loss of function
PDGFRA fusion unknown
PDGFRA V561D gain of function PDGFR Inhibitor (Pan) PDGFR-alpha Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRA D842V PDGFRA V561D Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, PDGFRA D842V conferred resistance to inhibition of PDGFRA phosphorylation by Sutent (sunitinib) in cells expressing PDGFRA V561D in culture (PMID: 18955458). 18955458
PDGFRA D842V gastrointestinal stromal tumor predicted - sensitive Regorafenib Clinical Study Actionable In a clinical study, Stivarga (regorafenib) treatment resulted in partial response in 11% (2/18) of patients and stable disease in 39% (7/18) of gastrointestinal stromal tumor patients, including prolonged stable disease for 12 months in a patient harboring PDGFRA D842V (PMID: 25905001). 25905001
PDGFRA D842V gastrointestinal stromal tumor predicted - sensitive Dasatinib Phase 0 Actionable In a clinical trial, Sprycel (dasatinib) treatment resulted in a partial response in 25% (12/48) of patients with Gleevec (imatinib)-resistant gastrointestinal stromal tumor, with decreased tumor size in 2 of those patients, 1 of which harbored PDGFRA D842V (PMID: 29710216). 29710216
PDGFRA D842V Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, expression of PDGFRA D842V conferred resistance to Gleevec (imatinib) in cell culture (PMID: 15928335). 15928335
PDGFRA D842V Advanced Solid Tumor resistant Nilotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing PDGFRA D842V demonstrated resistance to growth inhibition by Tasigna (nilotinib) in culture (PMID: 18794084). 18794084
PDGFRA D842V Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing PDGFRA D842V demonstrated resistance to inhibition of PDGFRA phosphorylation by Sutent (sunitinib) in culture (PMID: 18955458). 18955458
PDGFRA D842V gastrointestinal stromal tumor sensitive Crenolanib Phase Ib/II Actionable In a Phase I/II trial, treatment with Crenolanib (CP-868596) resulted in a clinical benefit rate of 31% (5/16) in gastronintestinal stromal tumor patients harboring PDGFRA D842V, with partial response in 2/16 and stable disease in 3/16 patients (J Clin Oncol 34, 2016 (suppl; abstr 11010)). detail...
PDGFRA D842V Advanced Solid Tumor sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib inhibited Pdgfra phosphorylation and proliferation of transformed cells expressing PDGFRA D842V in culture (PMID: 22745105). 22745105
PDGFRA D842V gastrointestinal stromal tumor sensitive Avapritinib Phase I Actionable In a Phase I trial, BLU-285 treatment resulted in partial response lasted for more than 15 cycles of treatment, and sustained reduction of plasma PDGFRA D842V in a patient with gastrointestinal stromal tumor harboring PDGFRA D842V, whose disease had progressed on previous Gleevec (imatinib mesylate), Sprycel (dasatinib), and Crenolanib treatment (PMID: 29093181; NCT02508532). 29093181
PDGFRA D842V Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, BLU-285 inhibited Kit phosphorylation in transformed cells overexpressing PDGFRA D842V in culture (PMID: 29093181). 29093181
PDGFRA rearrange myelodysplastic/myeloproliferative neoplasm sensitive Imatinib FDA approved Actionable Gleevec (imatinib) is FDA approved for myelodysplastic/myeloproliferative cancers that are associated with PDGFR rearrangements (FDA.gov). detail...
PDGFRA S566_E571delinsR Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation in transformed cells over expressing PDGFRA S566_E571delinsR in culture (PMID: 21224473). 21224473
PDGFRA D842X gastrointestinal stromal tumor sensitive Avapritinib Phase I Actionable In a Phase I trial, BLU-285 demonstrated preliminary antitumor activity in gastrointestinal stromal tumor patients harboring PDGFRA D842 mutations, with partial responses in 50% (6/12) and stable disease in 50% (6/12) of patients (EORTC-NCI-AACR 2016, Abs 6LBA). detail...
PDGFRA D842X gastrointestinal stromal tumor sensitive Avapritinib Phase I Actionable In a Phase I (NAVIGATOR) trial, Avapritinib (BLU-285) treatment resulted in an objective response rate of 70% (26/37, 2 complete responses, 24 partial responses) and a disease control rate of 97% (36/37) in patients with gastrointestinal stromal tumor harboring PDGFRA D842 mutations (The CTOS 2018 Annual Meeting, Nov 14-17, Rome Italy, Paper 012 3027631; NCT02508532). detail...
PDGFRA mutant gastrointestinal stromal tumor not applicable N/A Clinical Study Diagnostic PDGFRA mutations are used in the diagnosis of gastrointestinal stromal tumors (PMID: 26276366, PMID: 25729899). 25729899 26276366
CDKN2A mut MET del exon14 PDGFRA mut SMAD4 Q249H melanoma sensitive Imatinib + Carboplatin + Paclitaxel Clinical Study Actionable In a clinical study, a melanoma patient harboring a PDGFRA mutation, CDKN2A mutation, MET exon 14 splice site mutation, and SMAD4 Q249H demonstrated a 21 month overall survival when treated with a combination of Gleevec (imatinib), Paraplatin (carboplatin), and Taxol (paclitaxel) (PMID: 28514312). 28514312
PDGFRA Y849S myeloid leukemia sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of transformed mouse myeloid cells over expressing PDGFRA Y849S in culture (PMID: 21224473). 21224473
PDGFRA Y849S Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation and cell proliferation in transformed cells over expressing PDGFRA Y849S in culture (PMID: 21224473). 21224473
PDGFRA amp non-small cell lung carcinoma sensitive Sunitinib Preclinical Actionable In a preclinical study, Sutent (sunitinib) decreased cell proliferation and inhibited downstream signaling in a NSCLC cell line harboring a PDGFRA amplification (PMID: 19366796). 19366796
PDGFRA amp lung small cell carcinoma sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited growth of lung squamous cell cancer cells with PDGFRA amplification in culture (PMID: 22328973). 22328973
PDGFRA amp lung squamous cell carcinoma sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of lung squamous cell cancer cells with PDGFRA amplification in culture (PMID: 22328973). 22328973
PDGFRA amp lung squamous cell carcinoma sensitive Dasatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth of a lung squamous cell cancer (SCC) cell line with amplification of PDGFRA in culture, and inhibited tumor growth in PDGFRA-amplified lung SCC xenograft models (PMID: 22328973). 22328973
PDGFRA amp malignant peripheral nerve sheath tumor sensitive Imatinib Preclinical Actionable In a preclinical study, a malignant peripheral nerve sheath tumor cell line harboring a PDGFRA amplification demonstrated cell growth inhibition when treated with Gleevec (imatinib) (PMID: 16357008). 16357008
PDGFRA amp EGFR amp glioblastoma multiforme sensitive Gefitinib + Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) and Iressa (gefitinib) acted synergistically to decrease downstream signaling activity and inhibit cell growth of glioblastoma cell lines with EGFR and PDGFRA coamplification (PMID: 22323597). 22323597
ROS1 fusion KDR amp KIT amp PDGFRA amp non-small cell lung carcinoma predicted - resistant Crizotinib Clinical Study Actionable In a clinical study, a non-small cell lung carcinoma patient harboring a ROS1 fusion treated with Xalkori (crizotinib) responded, but eventually progressed, and was subsequently found to harbor presumed resistance alterations, including amplification of KIT, KDR, and PDGFRA (PMID: 29636358). 29636358
KIT amp PDGFRA amp glioblastoma multiforme sensitive DCC-2618 Phase I Actionable In a Phase I trial, DCC-2618 demonstrated preliminary safety and efficacy in patients with advanced solid tumors, including a partial response in a glioblastoma multiforme patient harboring KIT and PDGFRA amplification (EORTC-NCI-AACR 2016, Abs 7LBA). detail...
PDGFRA R841K Advanced Solid Tumor sensitive Crenolanib Preclinical Actionable In a preclinical study, crenolanib inhibited Pdgfra phosphorylation and decreased proliferation in cells expressing PDGFRA R841K in culture (PMID: 24132921). 24132921
PDGFRA R841K Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation and decreased proliferation in cells expressing PDGFRA R841K in culture (PMID: 24132921). 24132921
PDGFRA V561_I562insER Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation in transformed cells over expressing PDGFRA V561_I562insER in culture (PMID: 21224473). 21224473
PDGFRA act mut gastrointestinal stromal tumor not applicable N/A Guideline Diagnostic PDGFRA activating mutations aid the diagnosis of gastrointestinal stromal tumor (NCCN.org). detail...
PDGFRA act mut pancreatic cancer predicted - sensitive Vistusertib Phase I Actionable In a Phase I trial, Vistusertib (AZD2014) demonstrated safety and preliminary efficacy in patients with advanced solid tumors, including a patient with pancreatic cancer harboring a PDGFRA activating mutation (PMID: 25805799). 25805799
PDGFRA D846Y Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation and cell proliferation in transformed cells over expressing PDGFRA D846Y in culture (PMID: 21224473). 21224473
PDGFRA H845_N848delinsP Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation in transformed cells over expressing PDGFRA H845_N848delinsP in culture (PMID: 21224473). 21224473
PDGFRA R841_D842delinsKI Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing PDGFRA R841_D842delinsKI were resistant to inhibition of Pdgfra phosphorylation by Gleevec (imatinib) in culture (PMID: 21224473). 21224473
PDGFRA G853D Advanced Solid Tumor sensitive Crenolanib Preclinical Actionable In a preclinical study, crenolanib inhibited Pdgfra phosphorylation and decreased proliferation in transformed human cells expressing PDGFRA G853D in culture (PMID: 24132921). 24132921
PDGFRA G853D Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation and decreased proliferation in transformed human cells expressing PDGFRA G853D in culture (PMID: 24132921). 24132921
PDGFRA R748G myeloid leukemia sensitive Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of transformed mouse myeloid cells over expressing PDGFRA R748G in culture and prolonged survival in xenograft models (PMID: 21224473). 21224473
PDGFRA N659K Advanced Solid Tumor sensitive Crenolanib Preclinical Actionable In a preclinical study, crenolanib decreased Pdgfra phosphorylation in cells expressing PDGFRA N659K in culture (PMID: 22745105). 22745105
PDGFRA N659K Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) decreased Pdgfra phosphorylation in cells expressing PDGFRA N659K in culture (PMID: 22745105). 22745105
PDGFRA H650Q leukemia sensitive Imatinib Preclinical Actionable In a preclinical study, mice injected with transformed cells harboring PDGFRA H650Q developed leukemia-like disease that is sensitive to Gleevec (imatinib) (PMID: 21224473). 21224473
PDGFRA H845Y Advanced Solid Tumor sensitive Crenolanib Preclinical Actionable In a preclinical study, crenolanib inhibited Pdgfra phosphorylation in cells expressing PDGFRA H845Y in culture (PMID: 24132921). 24132921
PDGFRA H845Y Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation in cells expressing PDGFRA H845Y in culture (PMID: 24132921). 24132921
KIT A502_Y503dup PDGFRA H687Y gastrointestinal stromal tumor predicted - resistant Imatinib Clinical Study Actionable In a clinical study, PDGFRA H687Y was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring primary KIT A502_Y503dup, who developed resistance to Gleevec (imatinib mesylate) (PMID: 18488160). 18488160
PDGFRA D842Y Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation and decreased proliferation in transformed human cells expressing PDGFRA D842Y in culture (PMID: 24132921). 24132921
PDGFRA D842Y Advanced Solid Tumor sensitive Crenolanib Preclinical Actionable In a preclinical study, Crenolanib inhibited Pdgfra phosphorylation and decreased proliferation in transformed human cells expressing PDGFRA D842Y in culture (PMID: 24132921). 24132921
PDGFRA D842_I843delinsIM Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing PDGFRA D842_I843delinsIM were resistant to inhibition of Pdgfra phosphorylation by Gleevec (imatinib) in culture (PMID: 21224473). 21224473
PDGFRA I843del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) decreased phosphorylation of Pdgfra in cell lines expressing PDGFRA I843del mutation in culture (PMID: 14645423). 14645423
PDGFRA P577S Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited Pdgfra phosphorylation and decreased proliferation in cells expressing PDGFRA P577S in culture (PMID: 24132921). 24132921
PDGFRA P577S Advanced Solid Tumor sensitive Crenolanib Preclinical Actionable In a preclinical study, crenolanib inhibited Pdgfra phosphorylation and decreased proliferation in cells expressing PDGFRA P577S in culture (PMID: 24132921). 24132921
PDGFRA N659S myeloid leukemia decreased response Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed mouse myeloid cells over expressing PDGFRA N659S demonstrated reduced sensitivity to Gleevec (imatinib) in culture (PMID: 21224473). 21224473
PDGFRA L221F gastrointestinal stromal tumor sensitive Imatinib Phase I Actionable In a Phase I retrospective study, treatment with Gleevec (imatinib) demonstrated a prolonged response in a patient with a gastrointestinal stromal tumor harboring a PDGFRA L221F mutation (PMID: 22718859). 22718859
PDGFRA V658A Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, crenolanib inhibited Pdgfra phosphorylation and decreased proliferation in transformed human cells expressing PDGFRA V658A in culture (PMID: 24132921). 24132921
PDGFRA V658A Advanced Solid Tumor sensitive Crenolanib Preclinical Actionable In a preclinical study, crenolanib inhibited Pdgfra phosphorylation and decreased proliferation in cells expressing PDGFRA V658A in culture (PMID: 24132921). 24132921
PDGFRA V561D Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, BLU-285 inhibited Kit phosphorylation in transformed cells overexpressing PDGFRA V561D in culture (PMID: 29093181). 29093181
PDGFRA V561D Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, cells expressing PDGFRA V561D demonstrated sensitivity to Gleevec (imatinib) in cell culture (PMID: 15928335). 15928335