ATP8B2
ATPase phospholipid transporting 8B2
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150796164 | 1:154,300,643 | C/T | — | uncertain significance |
| rs141275731 | 1:154,303,298 | G/A | — | uncertain significance |
| rs146860968 | 1:154,303,345 | C/T | — | uncertain significance |
| rs200971904 | 1:154,303,563 | A/G | — | uncertain significance |
| rs749872657 | 1:154,303,620 | T/C | — | uncertain significance |
| rs2525070300 | 1:154,304,454 | A/G | — | uncertain significance |
| rs768000646 | 1:154,305,113 | C/T | — | uncertain significance |
| rs981632475 | 1:154,305,114 | G/A | — | uncertain significance |
| rs777644148 | 1:154,306,687 | C/T | — | uncertain significance |
| rs2525083050 | 1:154,306,693 | T/C | — | uncertain significance |
| rs767034036 | 1:154,309,899 | C/T | — | uncertain significance |
| rs41299633 | 1:154,309,918 | C/T | — | uncertain significance |
| rs542943117 | 1:154,310,010 | C/T | — | uncertain significance |
| rs768063706 | 1:154,313,387 | C/A | — | uncertain significance |
| rs2525115741 | 1:154,313,428 | C/T | — | uncertain significance |
| rs35725806 | 1:154,313,435 | C/T | — | benign |
| rs772962965 | 1:154,313,456 | G/C | — | uncertain significance |
| rs374968442 | 1:154,315,350 | G/A | — | uncertain significance |
| rs149862972 | 1:154,315,434 | G/A | — | uncertain significance |
| rs751883997 | 1:154,315,769 | C/G | — | uncertain significance |
| rs114883665 | 1:154,316,023 | C/T | — | benign |
| rs776756007 | 1:154,316,946 | A/G | — | uncertain significance |
| rs1312848888 | 1:154,317,122 | C/T | — | uncertain significance |
| rs375666727 | 1:154,317,124 | C/T | — | uncertain significance |
| rs780293703 | 1:154,317,125 | G/A | — | uncertain significance |
| rs145714388 | 1:154,317,137 | T/C | — | uncertain significance |
| rs562875701 | 1:154,317,452 | C/A | missense variant | — |
| rs1209548147 | 1:154,317,948 | A/G | — | uncertain significance |
| rs139958998 | 1:154,318,761 | C/A | — | uncertain significance |
| rs78278267 | 1:154,318,777 | A/G | — | uncertain significance |
| rs937927386 | 1:154,318,803 | G/A | — | uncertain significance |
| rs1351221099 | 1:154,318,824 | G/T | — | uncertain significance |
| rs1185005378 | 1:154,318,890 | G/A | — | uncertain significance |
| rs777644850 | 1:154,318,914 | A/T | — | uncertain significance |
| rs187911863 | 1:154,319,204 | G/A | — | uncertain significance |
| rs751173973 | 1:154,320,911 | C/T | — | uncertain significance |
| rs375664161 | 1:154,320,934 | C/T | — | uncertain significance |
| rs143318100 | 1:154,321,009 | G/A | — | uncertain significance |
| rs367630904 | 1:154,321,446 | T/C | — | uncertain significance |
| rs763479110 | 1:154,321,478 | G/T | — | uncertain significance |
| rs372175672 | 1:154,321,530 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.