APBB2
amyloid beta precursor protein binding family B member 2
Summary
The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs927170379 | 4:40,818,158 | G/A | — | uncertain significance |
| rs2549351907 | 4:40,818,209 | G/A | — | uncertain significance |
| rs1745564714 | 4:40,818,212 | G/A | — | uncertain significance |
| rs1306226599 | 4:40,818,216 | G/A | — | uncertain significance |
| rs1349371703 | 4:40,818,222 | G/C | — | uncertain significance |
| rs2549408023 | 4:40,823,910 | T/A | — | uncertain significance |
| rs756658820 | 4:40,825,666 | C/T | — | uncertain significance |
| rs199509946 | 4:40,827,943 | C/T | — | uncertain significance |
| rs111676334 | 4:40,829,167 | G/C | — | uncertain significance |
| rs1375446899 | 4:40,829,182 | T/C | — | uncertain significance |
| rs2549493515 | 4:40,832,485 | A/G | — | uncertain significance |
| rs758703402 | 4:40,892,411 | C/T | — | uncertain significance |
| rs778132637 | 4:40,892,421 | C/T | — | uncertain significance |
| rs1772606172 | 4:40,895,311 | T/G | — | uncertain significance |
| rs376389662 | 4:40,895,371 | C/T | — | uncertain significance |
| rs371609481 | 4:40,895,377 | C/T | — | uncertain significance |
| rs2550215480 | 4:40,895,386 | C/T | — | uncertain significance |
| rs2550666688 | 4:40,936,680 | A/T | — | uncertain significance |
| rs979242533 | 4:40,946,935 | A/G | — | uncertain significance |
| rs765041440 | 4:40,946,938 | C/G | — | uncertain significance |
| rs573666516 | 4:40,946,962 | C/T | — | uncertain significance |
| rs375419961 | 4:40,946,992 | G/C | — | uncertain significance |
| rs2550744147 | 4:40,947,022 | C/T | — | uncertain significance |
| rs199964463 | 4:40,947,090 | G/A | — | uncertain significance |
| rs3935357 | 4:40,951,828 | C/T | regulatory region variant | — |
| rs4861075 | 4:40,965,913 | T/G | — | — |
| rs4466078 | 4:40,973,527 | T/A | intron variant | — |
| rs59892895 | 4:40,997,258 | T/C | downstream gene variant | — |
| rs13133980 | 4:41,002,946 | G/T | — | — |
| rs371817559 | 4:41,015,644 | G/A | — | uncertain significance |
| rs191023447 | 4:41,015,790 | C/A | — | uncertain significance |
| rs1809075677 | 4:41,015,795 | G/A | — | uncertain significance |
| rs2551248446 | 4:41,015,860 | G/T | — | uncertain significance |
| rs374154927 | 4:41,015,887 | T/C | — | uncertain significance |
| rs762740147 | 4:41,015,998 | G/A | — | uncertain significance |
| rs764222374 | 4:41,016,020 | C/T | — | uncertain significance |
| rs1288328372 | 4:41,016,058 | G/A | — | uncertain significance |
| rs139474312 | 4:41,016,112 | C/T | — | uncertain significance |
| rs774437105 | 4:41,016,163 | C/G | — | uncertain significance |
| rs370137084 | 4:41,016,190 | G/A | — | uncertain significance |
| rs1484467691 | 4:41,016,200 | T/C | — | uncertain significance |
| rs377460632 | 4:41,016,205 | G/A | — | uncertain significance |
| rs1560527318 | 4:41,016,220 | A/G | — | uncertain significance |
| rs2551251339 | 4:41,016,223 | G/A | — | uncertain significance |
| rs768647071 | 4:41,016,253 | C/T | — | uncertain significance |
| rs764946397 | 4:41,016,276 | T/C | — | uncertain significance |
| rs762900676 | 4:41,016,298 | T/C | — | uncertain significance |
| rs951466767 | 4:41,016,359 | C/T | — | uncertain significance |
| rs1338321948 | 4:41,016,360 | G/C | — | uncertain significance |
| rs80120363 | 4:41,016,421 | G/A | — | benign |
| rs114070671 | 4:41,056,716 | A/G | intron variant | — |
| rs3098914 | 4:41,076,288 | G/T | regulatory region variant | — |
| rs17443013 | 4:41,135,544 | T/C | intron variant | — |
| rs2585590 | 4:41,144,591 | G/A | intron variant | — |
| rs150004393 | 4:41,146,566 | A/T | — | — |
| rs13111112 | 4:41,184,950 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.