APOA2
apolipoprotein A2
Summary
This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2525759209 | 1:161,192,197 | A/T | — | likely pathogenic |
| rs1195424854 | 1:161,192,202 | G/A | — | uncertain significance |
| rs1666183842 | 1:161,192,205 | G/T | — | uncertain significance |
| rs6413454 | 1:161,192,210 | C/T | — | benign |
| rs778751126 | 1:161,192,250 | A/T | — | uncertain significance |
| rs5088 | 1:161,192,251 | G/A | — | benign |
| rs138452270 | 1:161,192,255 | C/T | — | uncertain significance |
| rs1666185995 | 1:161,192,269 | T/G | — | uncertain significance |
| rs6413453 | 1:161,192,316 | G/A | splice region variant | benign |
| rs200191201 | 1:161,192,331 | T/G | — | likely benign |
| rs5085 | 1:161,192,511 | C/G | downstream gene variant | — |
| rs771259264 | 1:161,192,707 | C/T | — | pathogenic |
| rs142522492 | 1:161,192,772 | C/T | — | uncertain significance |
| rs376160563 | 1:161,193,137 | C/T | — | likely benign |
| rs201433891 | 1:161,193,212 | C/T | — | uncertain significance |
| rs3813625 | 1:161,193,407 | G/A | — | uncertain significance |
| rs5082 | 1:161,193,683 | T/C | upstream gene variant | pathogenic |
| rs3813627 | 1:161,195,148 | G/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.