ZFYVE16
zinc finger FYVE-type containing 16
Summary
This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Known Variants76 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs538081769 | 5:79,703,641 | C/A | — | — |
| rs112622970 | 5:79,732,631 | G/A | — | benign |
| rs369909490 | 5:79,732,659 | G/A | — | uncertain significance |
| rs148793646 | 5:79,732,691 | G/A | — | likely benign |
| rs200739138 | 5:79,732,701 | G/T | — | uncertain significance |
| rs1037784095 | 5:79,732,722 | A/G | — | likely benign |
| rs145932207 | 5:79,732,754 | A/G | — | uncertain significance |
| rs532644018 | 5:79,732,866 | G/A | — | uncertain significance |
| rs1295921108 | 5:79,732,959 | A/G | — | uncertain significance |
| rs2546464111 | 5:79,733,006 | T/C | — | uncertain significance |
| rs141062809 | 5:79,733,160 | A/G | — | likely benign |
| rs113579736 | 5:79,733,253 | G/A | — | benign |
| rs1750092319 | 5:79,733,268 | T/C | — | uncertain significance |
| rs2546466244 | 5:79,733,310 | G/A | — | uncertain significance |
| rs2546466559 | 5:79,733,362 | C/T | — | likely benign |
| rs759987147 | 5:79,733,372 | G/A | — | likely benign |
| rs764432349 | 5:79,733,393 | G/A | — | uncertain significance |
| rs369227671 | 5:79,733,424 | C/T | — | uncertain significance |
| rs374381996 | 5:79,733,426 | A/G | — | uncertain significance |
| rs138549732 | 5:79,733,476 | C/A | — | uncertain significance |
| rs780799768 | 5:79,733,537 | G/T | — | uncertain significance |
| rs2546468186 | 5:79,733,562 | A/G | — | uncertain significance |
| rs2546468223 | 5:79,733,564 | A/G | — | uncertain significance |
| rs376730393 | 5:79,733,583 | C/G | — | uncertain significance |
| rs748805433 | 5:79,733,684 | C/T | — | uncertain significance |
| rs113151211 | 5:79,733,685 | G/A | — | likely benign |
| rs766014829 | 5:79,733,868 | A/G | — | uncertain significance |
| rs144468152 | 5:79,733,886 | C/G | — | uncertain significance |
| rs746039851 | 5:79,733,912 | G/T | — | uncertain significance |
| rs1347070865 | 5:79,734,012 | T/C | — | uncertain significance |
| rs2546472995 | 5:79,734,135 | C/T | — | uncertain significance |
| rs1406120542 | 5:79,734,284 | A/G | — | uncertain significance |
| rs755991772 | 5:79,734,294 | A/G | — | uncertain significance |
| rs1561277007 | 5:79,734,302 | G/A | — | uncertain significance |
| rs761131943 | 5:79,734,344 | A/G | — | uncertain significance |
| rs2546475514 | 5:79,734,452 | A/G | — | uncertain significance |
| rs1580221222 | 5:79,734,489 | C/T | — | uncertain significance |
| rs145915760 | 5:79,734,524 | A/G | — | uncertain significance |
| rs774708139 | 5:79,734,554 | G/A | — | likely benign |
| rs749735116 | 5:79,734,625 | T/A | — | uncertain significance |
| rs376427316 | 5:79,734,689 | A/G | — | uncertain significance |
| rs1750333537 | 5:79,734,728 | C/G | — | uncertain significance |
| rs371218422 | 5:79,738,945 | A/G | — | uncertain significance |
| rs893040457 | 5:79,739,010 | A/G | — | likely benign |
| rs2546495879 | 5:79,739,040 | A/T | — | uncertain significance |
| rs1750918491 | 5:79,739,068 | T/G | — | uncertain significance |
| rs773902250 | 5:79,741,091 | C/G | — | uncertain significance |
| rs776946788 | 5:79,741,108 | G/T | — | uncertain significance |
| rs146812154 | 5:79,741,168 | T/C | — | uncertain significance |
| rs776911397 | 5:79,741,183 | T/C | — | uncertain significance |
| rs952702904 | 5:79,743,873 | C/T | — | uncertain significance |
| rs1412958029 | 5:79,744,044 | C/G | — | uncertain significance |
| rs1481253937 | 5:79,744,082 | A/G | — | uncertain significance |
| rs199866063 | 5:79,744,106 | T/A | — | uncertain significance |
| rs758706924 | 5:79,744,167 | C/G | — | uncertain significance |
| rs778930742 | 5:79,745,425 | A/T | — | uncertain significance |
| rs776342276 | 5:79,745,430 | C/T | — | uncertain significance |
| rs2546518803 | 5:79,746,297 | T/G | — | uncertain significance |
| rs751497520 | 5:79,746,384 | A/G | — | uncertain significance |
| rs765960937 | 5:79,747,345 | A/G | — | uncertain significance |
| rs2546522208 | 5:79,747,361 | A/G | — | uncertain significance |
| rs1554047435 | 5:79,747,363 | G/T | — | likely pathogenic |
| rs150124916 | 5:79,747,384 | A/G | — | uncertain significance |
| rs2546522777 | 5:79,747,501 | A/G | — | uncertain significance |
| rs1580301850 | 5:79,751,520 | C/T | — | uncertain significance |
| rs1266804690 | 5:79,752,332 | A/T | — | uncertain significance |
| rs1561310640 | 5:79,752,344 | G/C | — | uncertain significance |
| rs147397945 | 5:79,752,800 | A/C | — | uncertain significance |
| rs766791925 | 5:79,752,901 | T/G | — | uncertain significance |
| rs370397768 | 5:79,755,304 | A/G | — | uncertain significance |
| rs1754522190 | 5:79,768,675 | G/T | — | uncertain significance |
| rs2546575292 | 5:79,769,592 | G/A | — | uncertain significance |
| rs201811256 | 5:79,769,655 | G/C | — | uncertain significance |
| rs149042145 | 5:79,769,662 | T/C | — | uncertain significance |
| rs369005930 | 5:79,770,570 | C/T | — | uncertain significance |
| rs111722890 | 5:79,770,571 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.