FGFR4
fibroblast growth factor receptor 4
Summary
The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs641101 | 5:176,513,460 | A/C | — | — |
| rs3135911 | 5:176,513,896 | C/A | regulatory region variant | — |
| rs1966265 | 5:176,516,631 | G/A | missense variant | benign |
| rs747930223 | 5:176,516,647 | C/G | — | uncertain significance |
| rs422421 | 5:176,517,326 | T/C | intron variant | — |
| rs762859761 | 5:176,517,393 | C/T | — | uncertain significance |
| rs2149730689 | 5:176,517,420 | C/A | — | uncertain significance |
| rs446382 | 5:176,517,461 | T/G | — | benign |
| rs1331257393 | 5:176,517,559 | A/T | — | uncertain significance |
| rs758477132 | 5:176,517,591 | C/T | — | uncertain significance |
| rs376618 | 5:176,517,797 | C/T | missense variant | likely benign |
| rs560823913 | 5:176,517,799 | T/C | — | uncertain significance |
| rs55701137 | 5:176,517,801 | G/A | — | benign |
| rs55675160 | 5:176,518,037 | A/G | — | benign |
| rs546558669 | 5:176,518,070 | G/A | — | uncertain significance |
| rs1784352272 | 5:176,518,088 | C/T | — | uncertain significance |
| rs396007 | 5:176,518,426 | T/C | intron variant | — |
| rs753812223 | 5:176,518,737 | C/T | — | uncertain significance |
| rs200232395 | 5:176,518,738 | G/A | — | uncertain significance |
| rs3135923 | 5:176,518,766 | C/T | — | benign |
| rs755103491 | 5:176,518,767 | G/A | — | uncertain significance |
| rs752817668 | 5:176,518,782 | C/T | — | uncertain significance |
| rs452885 | 5:176,518,784 | C/T | — | benign |
| rs771333444 | 5:176,518,794 | C/A | — | uncertain significance |
| rs777010660 | 5:176,519,324 | C/T | — | uncertain significance |
| rs374603394 | 5:176,519,332 | G/A | — | likely benign |
| rs938855503 | 5:176,519,361 | C/T | — | uncertain significance |
| rs748100430 | 5:176,519,385 | G/A | — | uncertain significance |
| rs138464768 | 5:176,519,485 | C/T | — | likely benign |
| rs202234648 | 5:176,519,690 | G/A | — | uncertain significance |
| rs150737523 | 5:176,519,710 | G/A | missense variant | — |
| rs55658990 | 5:176,519,730 | C/T | — | likely benign |
| rs1057520036 | 5:176,520,181 | A/G | missense variant | — |
| rs763979974 | 5:176,520,202 | C/T | — | likely benign |
| rs351855 | 5:176,520,243 | G/A | missense variant | pathogenic |
| rs897462348 | 5:176,520,261 | G/A | — | uncertain significance |
| rs145302848 | 5:176,520,266 | C/G | synonymous variant | — |
| rs759709290 | 5:176,520,273 | C/T | — | uncertain significance |
| rs879104864 | 5:176,520,277 | A/C | — | uncertain significance |
| rs147603016 | 5:176,520,287 | G/A | synonymous variant | likely benign |
| rs779369671 | 5:176,520,291 | G/C | — | likely benign |
| rs1784435046 | 5:176,520,296 | T/A | — | likely benign |
| rs2533999421 | 5:176,520,303 | A/C | — | uncertain significance |
| rs149790098 | 5:176,520,443 | T/C | — | uncertain significance |
| rs763502037 | 5:176,520,500 | C/G | — | uncertain significance |
| rs189696258 | 5:176,520,559 | T/G | — | likely benign |
| rs1582014533 | 5:176,520,661 | G/A | — | likely benign |
| rs747438040 | 5:176,520,702 | T/C | — | uncertain significance |
| rs2011077 | 5:176,521,456 | C/T | regulatory region variant | — |
| rs1057519792 | 5:176,522,416 | C/A | missense variant | uncertain significance |
| rs1057519793 | 5:176,522,552 | T/A | missense variant | uncertain significance |
| rs483352775 | 5:176,522,587 | C/T | — | uncertain significance |
| rs777552586 | 5:176,522,636 | G/A | — | likely benign |
| rs34138361 | 5:176,522,675 | C/T | — | benign |
| rs42409 | 5:176,522,728 | T/C | — | benign |
| rs45523032 | 5:176,523,186 | G/A | — | benign |
| rs370907606 | 5:176,523,187 | G/A | — | likely benign |
| rs780720945 | 5:176,523,333 | C/T | — | uncertain significance |
| rs31777 | 5:176,523,562 | C/A | regulatory region variant | — |
| rs31776 | 5:176,523,597 | G/A | — | benign |
| rs759521008 | 5:176,523,697 | G/A | — | uncertain significance |
| rs151207425 | 5:176,523,707 | T/C | — | likely benign |
| rs113262579 | 5:176,523,825 | C/A | regulatory region variant | — |
| rs200192467 | 5:176,524,293 | G/A | — | likely benign |
| rs371591154 | 5:176,524,297 | G/A | — | uncertain significance |
| rs192201146 | 5:176,524,534 | G/A | missense variant | — |
| rs746562591 | 5:176,524,565 | C/G | — | uncertain significance |
| rs188755817 | 5:176,524,602 | C/T | synonymous variant | — |
| rs2534021217 | 5:176,524,615 | A/G | — | uncertain significance |
| rs931274193 | 5:176,524,621 | G/A | — | uncertain significance |
| rs551082604 | 5:176,524,672 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.