ANXA8L1
annexin A8 like 1
Summary
This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1554975591 | 10:47,158,869 | C/T | — | uncertain significance |
| rs184551877 | 10:47,158,870 | G/A | — | benign |
| rs2497666311 | 10:47,158,877 | T/A | — | uncertain significance |
| rs1331876224 | 10:47,164,320 | G/A | — | uncertain significance |
| rs1283615360 | 10:47,164,939 | C/T | — | uncertain significance |
| rs1172900789 | 10:47,166,258 | C/A | — | uncertain significance |
| rs1432933133 | 10:47,166,271 | G/A | — | uncertain significance |
| rs2497653004 | 10:47,167,111 | G/A | — | uncertain significance |
| rs1839980223 | 10:47,168,551 | C/T | — | uncertain significance |
| rs1839979555 | 10:47,168,599 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.