FYCO1
FYVE and coiled-coil domain autophagy adaptor 1
Summary
The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]
Known Variants393 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7130 | 3:45,959,515 | T/A | — | benign |
| rs547425913 | 3:45,959,532 | T/C | — | likely benign |
| rs1322082910 | 3:45,959,566 | T/G | — | uncertain significance |
| rs575175874 | 3:45,959,674 | G/A | — | uncertain significance |
| rs185588322 | 3:45,959,697 | G/T | — | likely benign |
| rs756372595 | 3:45,959,730 | C/T | — | uncertain significance |
| rs35867098 | 3:45,959,745 | A/T | — | uncertain significance |
| rs753979161 | 3:45,959,755 | T/A | — | uncertain significance |
| rs7129 | 3:45,959,759 | C/T | — | benign |
| rs113723273 | 3:45,959,818 | T/A | — | benign |
| rs886058550 | 3:45,959,891 | A/C | — | uncertain significance |
| rs982945628 | 3:45,959,931 | C/T | — | uncertain significance |
| rs886058551 | 3:45,959,974 | C/T | — | uncertain significance |
| rs546718807 | 3:45,959,979 | C/T | — | uncertain significance |
| rs886058552 | 3:45,960,066 | C/T | — | uncertain significance |
| rs1047444 | 3:45,960,079 | C/A | — | benign |
| rs570276173 | 3:45,960,194 | C/T | — | uncertain significance |
| rs537667165 | 3:45,960,200 | C/T | — | uncertain significance |
| rs970550677 | 3:45,960,251 | C/T | — | uncertain significance |
| rs886058553 | 3:45,960,368 | G/T | — | uncertain significance |
| rs182350140 | 3:45,960,406 | G/A | — | likely benign |
| rs1994491 | 3:45,960,420 | G/C | — | benign |
| rs759567503 | 3:45,960,486 | T/C | — | uncertain significance |
| rs186073318 | 3:45,960,500 | G/T | — | uncertain significance |
| rs886058554 | 3:45,960,516 | C/T | — | uncertain significance |
| rs61519998 | 3:45,960,562 | T/A | — | benign |
| rs1994492 | 3:45,960,646 | T/C | — | benign |
| rs1994493 | 3:45,960,700 | C/T | — | benign |
| rs3796373 | 3:45,960,851 | C/T | — | benign |
| rs987356196 | 3:45,960,914 | C/T | — | uncertain significance |
| rs886058555 | 3:45,960,950 | G/C | — | uncertain significance |
| rs886058556 | 3:45,960,956 | T/C | — | uncertain significance |
| rs886058557 | 3:45,960,971 | A/G | — | uncertain significance |
| rs773693634 | 3:45,960,982 | C/T | — | uncertain significance |
| rs144987706 | 3:45,961,019 | G/T | — | likely benign |
| rs75347427 | 3:45,961,197 | G/T | — | benign |
| rs149016664 | 3:45,961,509 | G/A | — | likely benign |
| rs527649068 | 3:45,961,571 | T/C | — | likely benign |
| rs886058558 | 3:45,961,602 | T/C | — | uncertain significance |
| rs143753654 | 3:45,961,812 | G/A | — | uncertain significance |
| rs116230454 | 3:45,961,838 | G/A | — | benign |
| rs1488374 | 3:45,961,842 | T/C | — | benign |
| rs868776572 | 3:45,961,846 | C/T | — | uncertain significance |
| rs757256026 | 3:45,961,859 | C/T | — | uncertain significance |
| rs1703050607 | 3:45,961,908 | A/G | — | uncertain significance |
| rs60431156 | 3:45,961,954 | G/C | — | benign |
| rs780841652 | 3:45,961,972 | C/G | — | uncertain significance |
| rs1296033449 | 3:45,961,987 | A/G | — | uncertain significance |
| rs886058560 | 3:45,962,022 | G/T | — | uncertain significance |
| rs541087301 | 3:45,962,046 | G/T | — | uncertain significance |
| rs538032998 | 3:45,962,072 | T/A | — | uncertain significance |
| rs187327525 | 3:45,962,084 | G/A | — | likely benign |
| rs886058561 | 3:45,962,108 | G/C | — | uncertain significance |
| rs1703060519 | 3:45,962,183 | G/A | — | uncertain significance |
| rs114644287 | 3:45,962,201 | G/A | — | benign |
| rs912973615 | 3:45,962,269 | G/T | — | uncertain significance |
| rs778420399 | 3:45,962,447 | C/T | — | uncertain significance |
| rs148133261 | 3:45,962,533 | G/T | — | likely benign |
| rs559852330 | 3:45,962,548 | G/A | — | uncertain significance |
| rs141954427 | 3:45,962,579 | T/C | — | uncertain significance |
| rs3733103 | 3:45,962,595 | C/G | — | benign |
| rs75928798 | 3:45,962,603 | A/G | — | benign |
| rs886058562 | 3:45,962,637 | C/T | — | uncertain significance |
| rs7652331 | 3:45,962,752 | T/C | 3 prime UTR variant | benign |
| rs73830632 | 3:45,962,791 | G/A | — | benign |
| rs6441934 | 3:45,962,802 | C/T | — | benign |
| rs965506856 | 3:45,962,826 | T/C | — | uncertain significance |
| rs536237093 | 3:45,962,915 | G/A | — | uncertain significance |
| rs2291470 | 3:45,962,942 | C/T | — | benign |
| rs2291471 | 3:45,962,949 | C/T | — | benign |
| rs111480321 | 3:45,963,066 | C/T | — | benign |
| rs544729621 | 3:45,963,081 | G/A | — | uncertain significance |
| rs886058563 | 3:45,963,125 | G/A | — | uncertain significance |
| rs1703099079 | 3:45,963,198 | G/C | — | uncertain significance |
| rs145828463 | 3:45,963,236 | G/A | — | benign |
| rs778635228 | 3:45,963,276 | T/C | — | uncertain significance |
| rs201764993 | 3:45,963,300 | G/A | — | uncertain significance |
| rs764470073 | 3:45,963,334 | T/C | — | conflicting classifications of pathogenicity |
| rs7618618 | 3:45,963,497 | G/T | — | benign |
| rs6800954 | 3:45,964,959 | C/T | — | benign |
| rs373944246 | 3:45,965,164 | C/T | — | uncertain significance |
| rs144587102 | 3:45,965,185 | C/T | — | uncertain significance |
| rs185127002 | 3:45,965,188 | G/T | — | conflicting classifications of pathogenicity |
| rs41289612 | 3:45,965,190 | G/A | — | conflicting classifications of pathogenicity |
| rs2528732110 | 3:45,965,208 | C/T | — | uncertain significance |
| rs372021321 | 3:45,965,217 | T/C | — | uncertain significance |
| rs2125787935 | 3:45,965,229 | G/A | — | uncertain significance |
| rs140159323 | 3:45,965,238 | C/T | — | conflicting classifications of pathogenicity |
| rs749045427 | 3:45,965,239 | G/A | — | pathogenic |
| rs35678722 | 3:45,965,244 | G/A | — | benign |
| rs1553620269 | 3:45,965,255 | G/T | — | likely benign |
| rs2248228 | 3:45,965,386 | G/A | — | benign |
| rs41289614 | 3:45,972,492 | T/C | — | benign |
| rs777307225 | 3:45,972,552 | C/T | — | uncertain significance |
| rs776739152 | 3:45,972,595 | C/T | — | uncertain significance |
| rs761942980 | 3:45,972,596 | C/T | — | likely benign |
| rs751893730 | 3:45,972,643 | C/A | — | uncertain significance |
| rs759845569 | 3:45,972,653 | G/T | — | likely benign |
| rs767162193 | 3:45,972,660 | C/T | — | uncertain significance |
| rs149783680 | 3:45,972,663 | G/C | — | conflicting classifications of pathogenicity |
Showing 100 of 393 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.