FNBP4
formin binding protein 4
Summary
This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769984885 | 11:47,741,535 | C/T | — | uncertain significance |
| rs763847558 | 11:47,744,532 | T/C | — | uncertain significance |
| rs923573810 | 11:47,744,557 | C/T | — | uncertain significance |
| rs577422292 | 11:47,744,598 | G/C | — | uncertain significance |
| rs757472760 | 11:47,744,614 | G/T | — | uncertain significance |
| rs2509953463 | 11:47,744,631 | G/A | — | uncertain significance |
| rs377684522 | 11:47,744,692 | T/C | — | uncertain significance |
| rs1173837505 | 11:47,744,752 | T/C | — | uncertain significance |
| rs772864117 | 11:47,744,787 | A/G | — | uncertain significance |
| rs1448050214 | 11:47,744,790 | C/T | — | uncertain significance |
| rs552225968 | 11:47,744,812 | G/A | — | likely benign |
| rs370277154 | 11:47,744,829 | A/G | — | uncertain significance |
| rs1316365410 | 11:47,744,833 | C/T | — | uncertain significance |
| rs35040940 | 11:47,745,664 | T/C | — | benign |
| rs138653244 | 11:47,745,696 | G/C | — | benign |
| rs369647144 | 11:47,746,023 | G/C | — | uncertain significance |
| rs148898872 | 11:47,746,024 | C/T | — | uncertain significance |
| rs758135384 | 11:47,746,064 | T/C | — | uncertain significance |
| rs768758855 | 11:47,746,144 | G/C | — | uncertain significance |
| rs373416629 | 11:47,746,168 | G/A | — | uncertain significance |
| rs763556428 | 11:47,752,983 | A/C | — | uncertain significance |
| rs2509981173 | 11:47,753,009 | C/G | — | uncertain significance |
| rs555829801 | 11:47,753,022 | C/T | — | uncertain significance |
| rs774140782 | 11:47,754,170 | C/T | — | uncertain significance |
| rs34287067 | 11:47,757,631 | C/T | — | — |
| rs768611111 | 11:47,758,200 | T/G | — | uncertain significance |
| rs763325627 | 11:47,758,209 | C/T | — | uncertain significance |
| rs368957872 | 11:47,758,226 | G/A | — | uncertain significance |
| rs12807014 | 11:47,760,078 | T/C | intron variant | — |
| rs11602339 | 11:47,761,471 | C/T | intron variant | — |
| rs750081709 | 11:47,765,543 | C/A | — | uncertain significance |
| rs200124691 | 11:47,767,726 | A/G | — | uncertain significance |
| rs184083336 | 11:47,767,773 | T/C | — | benign |
| rs368993047 | 11:47,767,774 | G/A | — | uncertain significance |
| rs752992940 | 11:47,767,926 | C/G | — | uncertain significance |
| rs11039364 | 11:47,769,620 | C/T | intron variant | — |
| rs61654484 | 11:47,772,458 | C/T | — | benign |
| rs183863471 | 11:47,772,473 | T/C | — | uncertain significance |
| rs749234616 | 11:47,772,526 | G/A | — | uncertain significance |
| rs930666790 | 11:47,772,542 | A/G | — | uncertain significance |
| rs2305985 | 11:47,772,545 | T/C | — | benign |
| rs148965139 | 11:47,772,711 | G/C | — | benign |
| rs200283000 | 11:47,772,796 | C/A | — | likely benign |
| rs780064080 | 11:47,772,797 | G/A | — | uncertain significance |
| rs1211474643 | 11:47,774,483 | A/C | — | uncertain significance |
| rs2097607189 | 11:47,774,485 | T/C | — | uncertain significance |
| rs201061906 | 11:47,774,581 | C/T | — | uncertain significance |
| rs192005080 | 11:47,774,663 | T/C | — | likely benign |
| rs146195318 | 11:47,776,072 | C/T | — | likely benign |
| rs34962598 | 11:47,776,156 | T/C | — | benign |
| rs12361031 | 11:47,783,076 | G/A | intron variant | — |
| rs1470938281 | 11:47,786,828 | C/T | — | uncertain significance |
| rs1207495303 | 11:47,788,630 | G/A | — | uncertain significance |
| rs776903426 | 11:47,788,737 | G/T | — | uncertain significance |
| rs200802680 | 11:47,788,763 | C/A | — | benign |
| rs146921625 | 11:47,788,808 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.