PDGFD
platelet derived growth factor D
Summary
The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs755849936 | 11:103,797,816 | T/G | — | uncertain significance |
| rs35362578 | 11:103,797,828 | C/T | — | uncertain significance |
| rs10895547 | 11:103,808,152 | C/T | intron variant | — |
| rs780361769 | 11:103,814,182 | T/C | — | uncertain significance |
| rs147536650 | 11:103,814,191 | C/T | — | uncertain significance |
| rs138512366 | 11:103,814,192 | G/A | — | uncertain significance |
| rs759096184 | 11:103,814,203 | G/A | — | uncertain significance |
| rs766907443 | 11:103,814,204 | A/G | — | uncertain significance |
| rs2496391745 | 11:103,814,246 | G/C | — | uncertain significance |
| rs369809953 | 11:103,814,263 | T/C | — | uncertain significance |
| rs2496397885 | 11:103,818,410 | A/G | — | uncertain significance |
| rs2220377 | 11:103,836,697 | C/A | — | — |
| rs568807570 | 11:103,866,813 | T/G | — | uncertain significance |
| rs371385178 | 11:103,866,891 | G/A | — | uncertain significance |
| rs115739682 | 11:103,870,640 | T/A | — | — |
| rs145184406 | 11:103,870,641 | T/C | — | — |
| rs1025498191 | 11:103,870,785 | A/G | — | uncertain significance |
| rs2496473243 | 11:103,870,825 | A/C | — | uncertain significance |
| rs591118 | 11:103,966,721 | A/C | — | — |
| rs7950273 | 11:104,031,598 | C/G | intron variant | — |
| rs10895596 | 11:104,032,043 | G/A | intron variant | — |
| rs557951442 | 11:104,034,562 | C/T | — | uncertain significance |
| rs2496343014 | 11:104,034,591 | G/T | — | uncertain significance |
| rs3809021 | 11:104,035,622 | T/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.