APBA1
amyloid beta precursor protein binding family A member 1
Summary
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1834590015 | 9:72,046,248 | T/G | — | uncertain significance |
| rs777405395 | 9:72,047,465 | T/C | — | uncertain significance |
| rs371567762 | 9:72,047,481 | C/T | — | uncertain significance |
| rs770422025 | 9:72,047,508 | C/T | — | uncertain significance |
| rs1158442406 | 9:72,047,544 | C/T | — | uncertain significance |
| rs1445102276 | 9:72,047,570 | C/G | — | uncertain significance |
| rs7033137 | 9:72,055,158 | C/G | intron variant | — |
| rs7049022 | 9:72,055,175 | A/T | — | — |
| rs369602668 | 9:72,055,998 | T/C | — | uncertain significance |
| rs759598664 | 9:72,056,018 | T/C | — | uncertain significance |
| rs2538028711 | 9:72,056,021 | T/A | — | uncertain significance |
| rs1834968292 | 9:72,064,579 | T/A | — | uncertain significance |
| rs756578388 | 9:72,067,054 | G/A | — | uncertain significance |
| rs201954883 | 9:72,071,237 | C/T | — | uncertain significance |
| rs760930916 | 9:72,071,260 | G/C | — | uncertain significance |
| rs370688256 | 9:72,071,269 | C/T | — | uncertain significance |
| rs765051126 | 9:72,072,025 | C/T | — | uncertain significance |
| rs750113226 | 9:72,072,035 | C/G | — | uncertain significance |
| rs765943132 | 9:72,072,043 | C/T | — | uncertain significance |
| rs2538056673 | 9:72,072,045 | C/T | — | uncertain significance |
| rs762770097 | 9:72,073,076 | T/A | — | uncertain significance |
| rs764965802 | 9:72,082,780 | C/T | — | uncertain significance |
| rs745501677 | 9:72,082,853 | G/A | — | likely benign |
| rs11138843 | 9:72,089,745 | C/T | intron variant | — |
| rs770815088 | 9:72,090,984 | C/T | — | uncertain significance |
| rs150818997 | 9:72,091,014 | T/C | — | likely benign |
| rs201849958 | 9:72,091,019 | G/A | — | uncertain significance |
| rs138179284 | 9:72,091,034 | G/T | — | uncertain significance |
| rs1197003426 | 9:72,091,040 | G/A | — | uncertain significance |
| rs11138902 | 9:72,103,314 | G/T | — | — |
| rs7859472 | 9:72,105,405 | T/A | intron variant | — |
| rs756779658 | 9:72,130,946 | T/A | — | uncertain significance |
| rs2538152664 | 9:72,130,949 | T/A | — | uncertain significance |
| rs375520741 | 9:72,130,951 | G/C | — | uncertain significance |
| rs2538153255 | 9:72,131,079 | T/C | — | uncertain significance |
| rs150860646 | 9:72,131,086 | C/T | — | benign |
| rs759515322 | 9:72,131,130 | C/T | — | uncertain significance |
| rs780657313 | 9:72,131,220 | G/A | — | uncertain significance |
| rs1443545402 | 9:72,131,222 | C/T | — | uncertain significance |
| rs150929571 | 9:72,131,334 | C/G | — | uncertain significance |
| rs761219932 | 9:72,131,507 | A/G | — | uncertain significance |
| rs1237573458 | 9:72,131,527 | C/G | — | uncertain significance |
| rs1270186775 | 9:72,131,645 | A/C | — | uncertain significance |
| rs2538156995 | 9:72,131,774 | T/G | — | uncertain significance |
| rs750346698 | 9:72,131,886 | T/C | — | uncertain significance |
| rs1488919597 | 9:72,132,061 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.