BACE1
beta-secretase 1
Summary
This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1047964 | 11:117,156,893 | G/T | — | — |
| rs535860 | 11:117,159,878 | A/T | downstream gene variant | — |
| rs202219817 | 11:117,160,321 | C/T | synonymous variant | — |
| rs138644093 | 11:117,160,329 | G/A | — | uncertain significance |
| rs2539869157 | 11:117,160,412 | G/T | — | uncertain significance |
| rs369014397 | 11:117,160,415 | A/G | — | uncertain significance |
| rs763317905 | 11:117,160,422 | T/C | — | uncertain significance |
| rs2539869260 | 11:117,160,427 | G/T | — | uncertain significance |
| rs1469726367 | 11:117,160,428 | T/C | — | uncertain significance |
| rs142581949 | 11:117,160,435 | A/T | — | uncertain significance |
| rs2539869564 | 11:117,160,478 | G/A | — | uncertain significance |
| rs368258749 | 11:117,161,242 | G/A | — | uncertain significance |
| rs768315074 | 11:117,161,654 | C/T | — | uncertain significance |
| rs751955665 | 11:117,161,746 | C/T | — | uncertain significance |
| rs756600885 | 11:117,161,764 | G/A | — | uncertain significance |
| rs2034445488 | 11:117,162,484 | G/A | — | uncertain significance |
| rs751773660 | 11:117,163,782 | C/A | — | uncertain significance |
| rs638405 | 11:117,163,824 | C/G | synonymous variant | — |
| rs1342769624 | 11:117,163,840 | T/G | — | uncertain significance |
| rs775880264 | 11:117,163,846 | C/T | — | uncertain significance |
| rs571508692 | 11:117,163,847 | G/A | — | uncertain significance |
| rs773752979 | 11:117,163,874 | T/C | — | uncertain significance |
| rs2539888326 | 11:117,164,615 | T/G | — | uncertain significance |
| rs2539888427 | 11:117,164,642 | C/T | — | uncertain significance |
| rs969230318 | 11:117,166,007 | T/C | — | uncertain significance |
| rs2539893889 | 11:117,166,016 | G/T | — | uncertain significance |
| rs752815008 | 11:117,167,628 | G/T | — | uncertain significance |
| rs548432676 | 11:117,171,454 | T/G | — | — |
| rs680210 | 11:117,172,820 | T/A | — | — |
| rs142093337 | 11:117,177,383 | C/T | regulatory region variant | — |
| rs525493 | 11:117,182,708 | T/G | upstream gene variant | — |
| rs759924602 | 11:117,186,258 | G/A | — | uncertain significance |
| rs764642283 | 11:117,186,321 | A/G | — | uncertain significance |
| rs919484982 | 11:117,186,394 | C/G | — | uncertain significance |
| rs1001067796 | 11:117,186,415 | C/A | — | uncertain significance |
| rs1201967915 | 11:117,186,478 | T/C | — | likely benign |
| rs4938369 | 11:117,188,120 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.