APLP1
amyloid beta precursor like protein 1
Summary
This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1407343890 | 19:36,359,579 | G/A | — | uncertain significance |
| rs2513872215 | 19:36,360,611 | A/G | — | uncertain significance |
| rs1307330477 | 19:36,360,623 | G/A | — | uncertain significance |
| rs201483792 | 19:36,360,666 | G/A | — | uncertain significance |
| rs757097521 | 19:36,361,838 | C/G | — | uncertain significance |
| rs1023376553 | 19:36,361,880 | G/A | — | uncertain significance |
| rs960256475 | 19:36,361,897 | C/A | — | uncertain significance |
| rs578207029 | 19:36,361,914 | G/A | synonymous variant | — |
| rs775672735 | 19:36,361,922 | G/A | — | likely benign |
| rs769779680 | 19:36,362,599 | T/C | — | uncertain significance |
| rs375123845 | 19:36,362,773 | C/T | — | uncertain significance |
| rs778700083 | 19:36,362,774 | G/A | — | uncertain significance |
| rs369442773 | 19:36,362,782 | C/T | — | uncertain significance |
| rs367773519 | 19:36,362,786 | C/G | — | uncertain significance |
| rs1974158791 | 19:36,362,797 | G/A | — | uncertain significance |
| rs1431429331 | 19:36,362,845 | G/T | — | uncertain significance |
| rs2513880992 | 19:36,362,875 | G/A | — | uncertain significance |
| rs892180063 | 19:36,362,896 | G/A | — | uncertain significance |
| rs2513883007 | 19:36,363,442 | A/G | — | uncertain significance |
| rs150106545 | 19:36,363,482 | C/T | — | benign |
| rs1475297217 | 19:36,364,547 | C/A | — | uncertain significance |
| rs144628787 | 19:36,364,575 | C/A | — | uncertain significance |
| rs753937698 | 19:36,364,595 | G/A | — | uncertain significance |
| rs201351812 | 19:36,365,446 | C/G | — | uncertain significance |
| rs1029454156 | 19:36,365,547 | C/A | — | uncertain significance |
| rs953366526 | 19:36,365,557 | C/T | — | uncertain significance |
| rs1281922690 | 19:36,365,767 | T/C | — | uncertain significance |
| rs200760118 | 19:36,367,507 | G/A | — | uncertain significance |
| rs142258705 | 19:36,368,688 | G/A | — | uncertain significance |
| rs771302083 | 19:36,369,543 | A/G | — | uncertain significance |
| rs1309406965 | 19:36,370,054 | G/T | — | uncertain significance |
| rs144655560 | 19:36,370,082 | A/G | — | uncertain significance |
| rs143425453 | 19:36,370,103 | G/C | — | uncertain significance |
| rs2513899679 | 19:36,370,109 | G/A | — | uncertain significance |
| rs1054963511 | 19:36,370,248 | G/A | — | uncertain significance |
| rs147200750 | 19:36,370,284 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.