ANXA3
annexin A3
Summary
This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2475873990 | 4:79,475,637 | A/C | — | uncertain significance |
| rs138440660 | 4:79,475,641 | G/C | — | uncertain significance |
| rs5951 | 4:79,494,374 | G/A | — | benign |
| rs943680372 | 4:79,494,375 | C/A | — | uncertain significance |
| rs776925223 | 4:79,494,418 | A/T | — | uncertain significance |
| rs141446480 | 4:79,500,216 | G/A | — | uncertain significance |
| rs146728751 | 4:79,500,235 | G/A | missense variant | — |
| rs770067653 | 4:79,500,246 | G/T | — | uncertain significance |
| rs1380586939 | 4:79,503,403 | C/G | — | uncertain significance |
| rs7679218 | 4:79,506,864 | G/C | — | — |
| rs547486327 | 4:79,507,417 | G/A | — | likely benign |
| rs2475903867 | 4:79,507,469 | G/A | — | uncertain significance |
| rs201122822 | 4:79,512,709 | A/G | — | uncertain significance |
| rs1723296006 | 4:79,512,716 | G/A | — | uncertain significance |
| rs145647753 | 4:79,512,733 | G/A | — | uncertain significance |
| rs2867461 | 4:79,513,215 | A/T | — | — |
| rs774639298 | 4:79,516,547 | G/A | — | uncertain significance |
| rs141392132 | 4:79,516,954 | T/C | — | uncertain significance |
| rs199594648 | 4:79,516,969 | A/G | — | uncertain significance |
| rs539172460 | 4:79,516,982 | C/A | — | uncertain significance |
| rs202053206 | 4:79,516,987 | G/A | — | uncertain significance |
| rs181593447 | 4:79,518,475 | T/A | — | uncertain significance |
| rs5948 | 4:79,518,494 | T/A | — | benign |
| rs2475920811 | 4:79,518,500 | A/C | — | uncertain significance |
| rs143704566 | 4:79,522,699 | G/A | — | uncertain significance |
| rs771966889 | 4:79,525,462 | G/C | — | uncertain significance |
| rs147238760 | 4:79,531,211 | C/T | — | uncertain significance |
| rs140215555 | 4:79,531,235 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.