PDGFC
platelet derived growth factor C
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. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28730491 | 4:157,681,274 | G/C | — | — |
| rs113128512 | 4:157,682,188 | T/C | 3 prime UTR variant | — |
| rs11100083 | 4:157,682,598 | T/C | 3 prime UTR variant | — |
| rs1425486 | 4:157,683,685 | C/T | 3 prime UTR variant | — |
| rs760783059 | 4:157,684,337 | T/C | — | uncertain significance |
| rs6833341 | 4:157,684,893 | T/G | — | — |
| rs142817291 | 4:157,688,991 | G/C | — | likely benign |
| rs756815335 | 4:157,689,005 | C/T | — | uncertain significance |
| rs10000702 | 4:157,692,331 | G/A | regulatory region variant | — |
| rs114678449 | 4:157,693,995 | T/G | — | likely benign |
| rs140044447 | 4:157,694,009 | G/C | — | uncertain significance |
| rs4691378 | 4:157,704,459 | A/G | intron variant | — |
| rs4691379 | 4:157,706,904 | C/T | intron variant | — |
| rs76115953 | 4:157,709,481 | C/A | — | — |
| rs10018717 | 4:157,710,700 | A/G | intron variant | — |
| rs111470110 | 4:157,712,250 | C/T | regulatory region variant | — |
| rs571465136 | 4:157,715,879 | G/A | — | — |
| rs4691380 | 4:157,720,124 | C/T | intron variant | — |
| rs6536206 | 4:157,722,036 | C/T | intron variant | — |
| rs1030602867 | 4:157,731,991 | G/T | — | uncertain significance |
| rs774202989 | 4:157,732,075 | C/T | — | uncertain significance |
| rs36103835 | 4:157,745,501 | C/T | intron variant | — |
| rs146333661 | 4:157,771,549 | A/T | — | uncertain significance |
| rs2530762666 | 4:157,771,560 | C/A | — | uncertain significance |
| rs10049781 | 4:157,785,349 | T/C | intron variant | — |
| rs78256087 | 4:157,785,885 | A/G | intron variant | — |
| rs74408817 | 4:157,801,752 | C/A | intron variant | — |
| rs77987816 | 4:157,814,336 | G/A | — | — |
| rs139145392 | 4:157,891,943 | T/C | — | likely benign |
| rs149931440 | 4:157,891,963 | C/A | — | likely benign |
| rs766170502 | 4:157,891,991 | G/A | — | uncertain significance |
| rs561086846 | 4:157,891,997 | G/A | — | uncertain significance |
| rs200141022 | 4:157,892,015 | G/C | — | uncertain significance |
| rs28999109 | 4:157,893,041 | G/A | regulatory region variant | — |
| rs79249651 | 4:157,894,028 | A/T | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.