FNIP1
folliculin interacting protein 1
Summary
This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]
Known Variants297 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2532083145 | 5:130,980,457 | C/A | — | uncertain significance |
| rs1020266228 | 5:130,980,464 | A/G | — | likely benign |
| rs772463858 | 5:130,980,471 | A/G | — | likely benign |
| rs26006 | 5:130,982,768 | A/G | — | benign |
| rs1197405873 | 5:130,982,816 | C/T | — | uncertain significance |
| rs779625091 | 5:130,982,824 | C/A | — | likely benign |
| rs2149501551 | 5:130,982,852 | C/T | — | pathogenic |
| rs371479580 | 5:130,982,888 | T/C | — | uncertain significance |
| rs374784019 | 5:130,982,912 | G/A | — | likely benign |
| rs778300733 | 5:130,987,478 | G/A | — | likely benign |
| rs747337427 | 5:130,987,487 | A/G | — | likely benign |
| rs2149504053 | 5:130,987,494 | C/T | — | pathogenic |
| rs78367776 | 5:130,987,503 | G/A | — | uncertain significance |
| rs1490926383 | 5:130,987,512 | T/C | — | uncertain significance |
| rs914744335 | 5:130,987,559 | C/A | — | uncertain significance |
| rs746371356 | 5:130,987,569 | A/G | — | likely benign |
| rs765292838 | 5:130,987,589 | T/C | — | uncertain significance |
| rs138667282 | 5:130,987,601 | C/T | — | uncertain significance |
| rs1767050563 | 5:130,987,610 | C/G | — | uncertain significance |
| rs371264668 | 5:130,987,649 | A/G | — | uncertain significance |
| rs143682385 | 5:130,987,666 | T/C | — | likely benign |
| rs891043524 | 5:130,987,697 | A/G | — | likely benign |
| rs27450 | 5:131,006,082 | A/G | — | benign |
| rs2532122828 | 5:131,006,137 | A/G | — | likely benign |
| rs749340956 | 5:131,006,166 | T/C | — | uncertain significance |
| rs183860907 | 5:131,006,171 | T/C | — | likely benign |
| rs748378994 | 5:131,006,176 | C/G | — | uncertain significance |
| rs143921415 | 5:131,006,194 | G/A | — | uncertain significance |
| rs2532122988 | 5:131,006,213 | A/G | — | likely benign |
| rs751151896 | 5:131,006,240 | A/G | — | likely benign |
| rs768651436 | 5:131,006,249 | G/A | — | likely benign |
| rs115290201 | 5:131,006,273 | C/T | — | benign |
| rs752731602 | 5:131,006,276 | G/A | — | likely benign |
| rs1336847664 | 5:131,006,291 | G/A | — | likely benign |
| rs1218482135 | 5:131,006,339 | C/T | — | likely benign |
| rs2532123322 | 5:131,006,340 | C/T | — | likely benign |
| rs26007 | 5:131,006,356 | T/A | — | benign |
| rs139117851 | 5:131,007,226 | C/A | — | benign |
| rs2532125354 | 5:131,007,238 | G/T | — | uncertain significance |
| rs143245360 | 5:131,007,268 | T/C | — | uncertain significance |
| rs150874654 | 5:131,007,282 | C/A | — | uncertain significance |
| rs2532125476 | 5:131,007,287 | A/G | — | likely benign |
| rs374086314 | 5:131,007,340 | T/G | — | uncertain significance |
| rs2532125604 | 5:131,007,347 | T/C | — | likely benign |
| rs781508824 | 5:131,007,351 | G/C | — | uncertain significance |
| rs76224953 | 5:131,007,358 | C/T | — | benign |
| rs149627789 | 5:131,007,398 | G/T | — | likely benign |
| rs2532125903 | 5:131,007,413 | T/C | — | likely benign |
| rs2532125920 | 5:131,007,416 | A/G | — | likely benign |
| rs144448122 | 5:131,007,425 | G/C | — | likely benign |
| rs144057252 | 5:131,007,440 | G/A | — | likely benign |
| rs1415502755 | 5:131,007,469 | T/C | — | uncertain significance |
| rs763547590 | 5:131,007,477 | C/T | — | uncertain significance |
| rs61746600 | 5:131,007,487 | A/G | — | benign |
| rs2532126142 | 5:131,007,488 | T/A | — | uncertain significance |
| rs767703559 | 5:131,007,491 | A/C | — | uncertain significance |
| rs756350752 | 5:131,007,507 | T/C | — | uncertain significance |
| rs1184938316 | 5:131,007,540 | A/G | — | uncertain significance |
| rs780570527 | 5:131,007,553 | C/T | — | uncertain significance |
| rs1767763172 | 5:131,007,554 | T/C | — | likely benign |
| rs1276227870 | 5:131,007,593 | A/C | — | likely benign |
| rs377590143 | 5:131,007,604 | C/T | — | uncertain significance |
| rs139857435 | 5:131,007,605 | G/T | — | likely benign |
| rs7717874 | 5:131,007,607 | T/C | — | benign |
| rs922729510 | 5:131,007,617 | A/G | — | likely benign |
| rs917205989 | 5:131,007,629 | G/A | — | likely benign |
| rs373191619 | 5:131,007,632 | G/A | — | likely benign |
| rs765075237 | 5:131,007,660 | T/C | — | uncertain significance |
| rs1202020218 | 5:131,007,672 | G/A | — | uncertain significance |
| rs752635350 | 5:131,007,693 | G/A | — | uncertain significance |
| rs568352435 | 5:131,007,701 | G/A | — | likely benign |
| rs12108954 | 5:131,007,710 | A/G | — | benign |
| rs751109861 | 5:131,007,715 | A/C | — | uncertain significance |
| rs146785367 | 5:131,007,725 | T/C | — | likely benign |
| rs1767770414 | 5:131,007,734 | G/C | — | likely benign |
| rs1352139705 | 5:131,007,747 | G/A | — | uncertain significance |
| rs772671350 | 5:131,007,752 | T/C | — | likely benign |
| rs373328701 | 5:131,007,765 | A/G | — | uncertain significance |
| rs374100225 | 5:131,007,770 | C/T | — | likely benign |
| rs759734578 | 5:131,007,771 | C/T | — | uncertain significance |
| rs1767772856 | 5:131,007,781 | C/T | — | uncertain significance |
| rs77554442 | 5:131,007,787 | A/G | — | benign |
| rs2532126924 | 5:131,007,812 | C/G | — | uncertain significance |
| rs748559768 | 5:131,007,855 | G/A | — | uncertain significance |
| rs199592146 | 5:131,007,863 | A/G | — | likely benign |
| rs2532127087 | 5:131,007,873 | A/G | — | uncertain significance |
| rs1330115441 | 5:131,007,902 | C/T | — | likely benign |
| rs12109782 | 5:131,007,925 | C/A | — | likely benign |
| rs770632116 | 5:131,007,927 | A/G | — | uncertain significance |
| rs1280429882 | 5:131,007,928 | T/C | — | uncertain significance |
| rs1767780824 | 5:131,007,946 | T/G | — | uncertain significance |
| rs185558164 | 5:131,007,948 | T/C | — | likely benign |
| rs1767781357 | 5:131,007,959 | T/C | — | likely benign |
| rs146338247 | 5:131,007,963 | G/A | — | uncertain significance |
| rs769749960 | 5:131,008,022 | T/G | — | likely benign |
| rs775757670 | 5:131,008,032 | G/A | — | uncertain significance |
| rs768455574 | 5:131,008,038 | T/C | — | uncertain significance |
| rs139181588 | 5:131,008,039 | C/G | — | likely benign |
| rs368694860 | 5:131,008,073 | T/C | — | likely benign |
| rs201494979 | 5:131,008,086 | G/A | — | uncertain significance |
Showing 100 of 297 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.