PDGFA
platelet derived growth factor subunit A
Summary
This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs912036658 | 7:540,121 | G/A | — | uncertain significance |
| rs781766824 | 7:540,133 | C/T | — | uncertain significance |
| rs370495510 | 7:540,768 | G/A | — | uncertain significance |
| rs1782319197 | 7:540,788 | G/A | — | uncertain significance |
| rs145010817 | 7:540,801 | C/T | — | likely benign |
| rs61733314 | 7:540,823 | C/T | — | benign |
| rs9691628 | 7:542,550 | C/G | intron variant | — |
| rs9690350 | 7:547,800 | G/A | — | — |
| rs199854063 | 7:550,452 | G/C | — | uncertain significance |
| rs267601541 | 7:550,457 | G/A | — | uncertain significance |
| rs1474112533 | 7:550,539 | C/T | — | uncertain significance |
| rs151111414 | 7:552,021 | G/A | — | uncertain significance |
| rs568655802 | 7:552,051 | C/A | — | uncertain significance |
| rs750240781 | 7:552,066 | G/T | — | uncertain significance |
| rs150909339 | 7:552,468 | G/A | — | — |
| rs1020621682 | 7:557,049 | G/T | — | uncertain significance |
| rs138786227 | 7:557,066 | C/T | — | likely benign |
| rs200687076 | 7:557,080 | C/G | — | uncertain significance |
| rs2483394128 | 7:557,119 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.