BTC
betacellulin
Summary
This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs782444660 | 4:75,673,310 | T/C | — | uncertain significance |
| rs1489117464 | 4:75,673,314 | C/T | — | uncertain significance |
| rs181948052 | 4:75,673,325 | C/T | — | uncertain significance |
| rs148442541 | 4:75,675,799 | C/A | — | uncertain significance |
| rs142587432 | 4:75,675,802 | C/T | — | uncertain significance |
| rs1279768000 | 4:75,675,838 | T/G | — | uncertain significance |
| rs782329883 | 4:75,675,858 | T/C | — | uncertain significance |
| rs1436050193 | 4:75,675,883 | A/G | — | uncertain significance |
| rs782142077 | 4:75,675,894 | C/T | — | uncertain significance |
| rs140833956 | 4:75,675,899 | A/C | — | uncertain significance |
| rs2476380806 | 4:75,675,901 | A/G | — | uncertain significance |
| rs782723639 | 4:75,675,913 | T/A | — | uncertain significance |
| rs1486707544 | 4:75,675,923 | A/C | — | uncertain significance |
| rs62316308 | 4:75,676,337 | C/A | intron variant | — |
| rs62316310 | 4:75,676,529 | G/A | intron variant | — |
| rs62316311 | 4:75,676,572 | G/A | intron variant | — |
| rs28862935 | 4:75,693,465 | G/A | intron variant | — |
| rs56320257 | 4:75,695,301 | G/A | — | benign |
| rs2109900066 | 4:75,695,357 | A/T | — | uncertain significance |
| rs576070134 | 4:75,715,375 | A/G | — | — |
| rs967874 | 4:75,718,104 | A/T | intron variant | — |
| rs190304442 | 4:75,719,421 | T/C | regulatory region variant | — |
| rs751742169 | 4:75,719,490 | G/A | — | uncertain significance |
| rs28549760 | 4:75,719,517 | A/C | missense variant | — |
| rs574312284 | 4:75,719,520 | G/A | — | uncertain significance |
| rs2476490269 | 4:75,719,522 | G/A | — | uncertain significance |
| rs1461436134 | 4:75,719,528 | C/G | — | likely benign |
| rs28690341 | 4:75,719,768 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.