FGF5
fibroblast growth factor 5
Summary
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1182178677 | 4:81,188,042 | G/A | — | uncertain significance |
| rs138396845 | 4:81,188,061 | C/T | — | uncertain significance |
| rs1028201656 | 4:81,188,062 | C/T | — | likely benign |
| rs527879794 | 4:81,188,084 | G/A | — | uncertain significance |
| rs200286054 | 4:81,188,123 | A/G | — | uncertain significance |
| rs35626275 | 4:81,188,185 | C/T | — | likely benign |
| rs765328075 | 4:81,188,214 | T/G | — | uncertain significance |
| rs112475347 | 4:81,188,221 | G/T | — | likely benign |
| rs141909514 | 4:81,188,288 | T/C | — | uncertain significance |
| rs373878896 | 4:81,188,317 | C/G | — | uncertain significance |
| rs34783620 | 4:81,191,853 | C/T | intron variant | — |
| rs35757217 | 4:81,193,501 | T/C | intron variant | — |
| rs34383234 | 4:81,195,856 | T/C | intron variant | — |
| rs931630982 | 4:81,196,105 | T/C | — | uncertain significance |
| rs200472889 | 4:81,196,113 | G/A | — | uncertain significance |
| rs1035626157 | 4:81,196,135 | C/T | — | uncertain significance |
| rs587777579 | 4:81,196,167 | — | — | pathogenic |
| rs72658365 | 4:81,199,371 | T/C | intron variant | — |
| rs181409212 | 4:81,203,939 | G/T | intron variant | — |
| rs7681907 | 4:81,205,868 | G/A | intron variant | — |
| rs4690116 | 4:81,206,377 | T/A | intron variant | — |
| rs368204813 | 4:81,207,495 | A/T | — | uncertain significance |
| rs587777581 | 4:81,207,539 | T/C | missense variant | pathogenic |
| rs145032506 | 4:81,207,542 | G/T | — | uncertain significance |
| rs2476033527 | 4:81,207,564 | A/G | — | uncertain significance |
| rs776917011 | 4:81,207,569 | A/C | — | uncertain significance |
| rs201557946 | 4:81,207,618 | G/A | — | uncertain significance |
| rs573054858 | 4:81,207,629 | C/T | — | uncertain significance |
| rs763306755 | 4:81,207,641 | C/A | — | uncertain significance |
| rs184034246 | 4:81,207,708 | C/T | — | uncertain significance |
| rs752623488 | 4:81,207,757 | G/C | — | uncertain significance |
| rs770450045 | 4:81,207,776 | C/T | — | uncertain significance |
| rs371866408 | 4:81,207,832 | C/T | — | likely benign |
| rs3733336 | 4:81,207,963 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.