APPBP2
amyloid beta precursor protein binding protein 2
Summary
The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751195631 | 17:58,524,961 | A/G | — | uncertain significance |
| rs1360592487 | 17:58,524,989 | C/G | — | uncertain significance |
| rs1037591458 | 17:58,525,022 | C/T | — | uncertain significance |
| rs377108787 | 17:58,525,066 | C/T | — | uncertain significance |
| rs763327657 | 17:58,539,370 | G/C | — | uncertain significance |
| rs2545201264 | 17:58,541,422 | G/C | — | uncertain significance |
| rs946370924 | 17:58,556,543 | G/A | — | uncertain significance |
| rs1045219936 | 17:58,556,552 | C/T | — | uncertain significance |
| rs150102587 | 17:58,571,976 | T/C | — | uncertain significance |
| rs142122062 | 17:58,602,131 | G/A | regulatory region variant | — |
| rs140338925 | 17:58,603,213 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.