FGFRL1
fibroblast growth factor receptor like 1
Summary
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants264 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs575630622 | 4:1,006,286 | C/T | — | uncertain significance |
| rs753833720 | 4:1,006,295 | C/T | — | likely benign |
| rs1363826707 | 4:1,006,307 | C/T | — | uncertain significance |
| rs926251874 | 4:1,006,313 | C/T | — | likely benign |
| rs1313350237 | 4:1,006,318 | G/C | — | likely benign |
| rs4647942 | 4:1,006,333 | G/A | — | benign |
| rs958278430 | 4:1,006,339 | C/T | — | likely benign |
| rs1368662831 | 4:1,006,347 | C/T | — | uncertain significance |
| rs1225897688 | 4:1,006,348 | C/T | — | likely benign |
| rs768315040 | 4:1,006,349 | C/G | — | uncertain significance |
| rs1715655800 | 4:1,006,365 | G/T | — | likely benign |
| rs1221104082 | 4:1,006,372 | C/T | — | likely benign |
| rs76051363 | 4:1,006,987 | C/T | regulatory region variant | — |
| rs56396408 | 4:1,008,386 | C/T | regulatory region variant | — |
| rs56034896 | 4:1,010,782 | C/T | intron variant | — |
| rs2335491 | 4:1,011,066 | T/A | — | — |
| rs748650 | 4:1,011,084 | G/C | — | — |
| rs771445990 | 4:1,015,982 | C/T | — | likely benign |
| rs779324226 | 4:1,015,984 | C/T | — | likely benign |
| rs2534144995 | 4:1,015,991 | G/T | — | uncertain significance |
| rs761850703 | 4:1,015,999 | A/G | — | uncertain significance |
| rs78299800 | 4:1,016,006 | C/T | — | benign |
| rs1342533822 | 4:1,016,007 | G/A | — | likely benign |
| rs557619683 | 4:1,016,024 | G/A | — | likely benign |
| rs201988101 | 4:1,016,025 | G/A | — | likely benign |
| rs755606953 | 4:1,016,028 | G/C | — | uncertain significance |
| rs746384176 | 4:1,016,035 | C/T | — | uncertain significance |
| rs769788707 | 4:1,016,053 | C/T | — | uncertain significance |
| rs766480123 | 4:1,016,071 | G/A | — | uncertain significance |
| rs767154264 | 4:1,016,082 | G/A | — | likely benign |
| rs752311377 | 4:1,016,084 | C/T | — | uncertain significance |
| rs1577567162 | 4:1,016,089 | C/T | — | likely benign |
| rs1326499468 | 4:1,016,103 | C/T | — | likely benign |
| rs191062034 | 4:1,016,113 | C/T | — | uncertain significance |
| rs372553975 | 4:1,016,127 | C/T | — | likely benign |
| rs775138464 | 4:1,016,138 | G/C | — | uncertain significance |
| rs763867368 | 4:1,016,144 | G/A | — | uncertain significance |
| rs61733101 | 4:1,016,145 | C/A | — | benign |
| rs1376161868 | 4:1,016,149 | C/A | — | uncertain significance |
| rs776843445 | 4:1,016,153 | C/T | — | uncertain significance |
| rs756265844 | 4:1,016,172 | G/T | — | uncertain significance |
| rs1165301571 | 4:1,016,194 | G/A | — | uncertain significance |
| rs576840405 | 4:1,016,196 | C/A | — | likely benign |
| rs200736918 | 4:1,016,197 | G/A | — | uncertain significance |
| rs113418020 | 4:1,016,202 | C/T | — | likely benign |
| rs776300560 | 4:1,016,203 | G/A | — | uncertain significance |
| rs147343114 | 4:1,016,211 | G/A | — | likely benign |
| rs1716240836 | 4:1,016,215 | A/G | — | uncertain significance |
| rs752971788 | 4:1,016,220 | C/T | — | likely benign |
| rs756531169 | 4:1,016,226 | C/T | — | likely benign |
| rs779128594 | 4:1,016,234 | T/G | — | uncertain significance |
| rs746021134 | 4:1,016,237 | G/A | — | uncertain significance |
| rs771885034 | 4:1,016,238 | C/T | — | likely benign |
| rs746746134 | 4:1,016,246 | A/G | — | uncertain significance |
| rs139057147 | 4:1,016,247 | C/T | — | likely benign |
| rs772572830 | 4:1,016,254 | G/A | — | conflicting classifications of pathogenicity |
| rs1208636597 | 4:1,016,255 | T/C | — | uncertain significance |
| rs767870668 | 4:1,016,257 | G/A | — | uncertain significance |
| rs370393447 | 4:1,016,278 | C/T | — | likely benign |
| rs4647934 | 4:1,016,279 | G/C | — | likely benign |
| rs11723654 | 4:1,016,480 | A/G | regulatory region variant | — |
| rs758351811 | 4:1,017,410 | C/T | — | likely benign |
| rs993755325 | 4:1,017,412 | C/T | — | likely benign |
| rs367793461 | 4:1,017,417 | G/A | — | likely benign |
| rs750741973 | 4:1,017,421 | C/G | — | likely benign |
| rs2534149086 | 4:1,017,441 | C/G | — | uncertain significance |
| rs777232211 | 4:1,017,444 | G/A | — | uncertain significance |
| rs2534149148 | 4:1,017,455 | C/T | — | likely benign |
| rs769257115 | 4:1,017,464 | G/A | — | uncertain significance |
| rs1406535880 | 4:1,017,475 | T/C | — | likely benign |
| rs763233631 | 4:1,017,488 | G/A | — | uncertain significance |
| rs751619106 | 4:1,017,491 | C/T | — | uncertain significance |
| rs376193356 | 4:1,017,493 | C/T | — | likely benign |
| rs1166483143 | 4:1,017,494 | G/A | — | uncertain significance |
| rs1560564293 | 4:1,017,516 | A/T | — | likely benign |
| rs4647933 | 4:1,017,519 | G/C | — | benign |
| rs756909908 | 4:1,017,526 | G/A | — | likely benign |
| rs749613570 | 4:1,017,608 | G/A | — | uncertain significance |
| rs201696860 | 4:1,017,613 | C/T | — | uncertain significance |
| rs1716337127 | 4:1,017,640 | C/T | — | uncertain significance |
| rs775524754 | 4:1,017,641 | G/A | — | uncertain significance |
| rs1405477812 | 4:1,017,644 | G/A | — | uncertain significance |
| rs1283076647 | 4:1,017,651 | C/T | — | likely benign |
| rs761612724 | 4:1,017,656 | G/C | — | uncertain significance |
| rs113814624 | 4:1,017,660 | C/T | — | likely benign |
| rs779904701 | 4:1,017,661 | G/A | — | uncertain significance |
| rs140852364 | 4:1,017,672 | C/T | — | benign |
| rs778281827 | 4:1,017,673 | G/A | — | uncertain significance |
| rs2534149965 | 4:1,017,675 | G/A | — | likely benign |
| rs749760188 | 4:1,017,676 | C/T | — | uncertain significance |
| rs771531742 | 4:1,017,677 | G/A | — | uncertain significance |
| rs1181132620 | 4:1,017,681 | C/T | — | likely benign |
| rs1046879369 | 4:1,017,683 | A/G | — | uncertain significance |
| rs779235733 | 4:1,017,687 | C/T | — | likely benign |
| rs377175884 | 4:1,017,688 | G/A | — | uncertain significance |
| rs1553919741 | 4:1,017,692 | C/T | — | uncertain significance |
| rs772250235 | 4:1,017,693 | C/G | — | likely benign |
| rs2534150029 | 4:1,017,695 | G/A | — | uncertain significance |
| rs1399378736 | 4:1,017,696 | C/T | — | likely benign |
| rs768632874 | 4:1,017,708 | G/T | — | likely benign |
Showing 100 of 264 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.