ANXA9
annexin A9
Summary
The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185823447 | 1:150,949,679 | T/C | regulatory region variant | — |
| rs4970988 | 1:150,950,062 | G/T | — | — |
| rs267734 | 1:150,951,477 | T/C | upstream gene variant | — |
| rs112742193 | 1:150,954,532 | C/T | regulatory region variant | — |
| rs775265271 | 1:150,955,603 | A/G | — | uncertain significance |
| rs142946157 | 1:150,955,604 | T/C | — | likely benign |
| rs1237651744 | 1:150,955,827 | G/A | — | uncertain significance |
| rs200920607 | 1:150,955,898 | A/G | — | uncertain significance |
| rs12405726 | 1:150,956,128 | G/A | intron variant | — |
| rs750354694 | 1:150,956,489 | C/G | — | uncertain significance |
| rs368497566 | 1:150,956,490 | G/A | — | uncertain significance |
| rs182619039 | 1:150,956,514 | T/C | — | uncertain significance |
| rs147042782 | 1:150,956,535 | G/A | — | uncertain significance |
| rs267598009 | 1:150,956,765 | G/A | — | uncertain significance |
| rs2528079845 | 1:150,956,866 | T/C | — | uncertain significance |
| rs748876350 | 1:150,957,081 | A/G | — | uncertain significance |
| rs1671557380 | 1:150,958,832 | G/T | — | uncertain significance |
| rs267733 | 1:150,958,836 | A/G | missense variant | — |
| rs1257869891 | 1:150,958,868 | G/A | — | uncertain significance |
| rs1402181868 | 1:150,959,082 | G/C | — | uncertain significance |
| rs1353704903 | 1:150,959,100 | G/C | — | uncertain significance |
| rs754503970 | 1:150,959,120 | G/T | — | uncertain significance |
| rs2528095594 | 1:150,960,620 | A/C | — | uncertain significance |
| rs1400306373 | 1:150,960,621 | A/C | — | uncertain significance |
| rs771415277 | 1:150,960,624 | G/A | — | uncertain significance |
| rs2528095681 | 1:150,960,633 | G/T | — | uncertain significance |
| rs587751896 | 1:150,960,656 | G/A | — | likely benign |
| rs199810684 | 1:150,960,780 | C/T | — | uncertain significance |
| rs1722784 | 1:150,961,869 | A/G | intron variant | — |
| rs201078370 | 1:150,967,099 | G/T | — | uncertain significance |
| rs2528119706 | 1:150,967,120 | G/A | — | uncertain significance |
| rs1223091337 | 1:150,967,129 | C/A | — | uncertain significance |
| rs2528124750 | 1:150,967,751 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.