CACNA2D3
calcium voltage-gated channel auxiliary subunit alpha2delta 3
Summary
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Known Variants105 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs112586249 | 3:54,156,146 | T/G | regulatory region variant | — |
| rs186723454 | 3:54,156,598 | A/C | — | — |
| rs531852353 | 3:54,156,747 | G/C | — | uncertain significance |
| rs1010591572 | 3:54,156,754 | G/T | — | uncertain significance |
| rs966606951 | 3:54,156,775 | G/A | — | uncertain significance |
| rs1468343451 | 3:54,156,780 | G/A | — | uncertain significance |
| rs1191834640 | 3:54,156,817 | C/T | — | uncertain significance |
| rs9878608 | 3:54,157,059 | C/G | regulatory region variant | — |
| rs2470837173 | 3:54,157,562 | T/C | — | uncertain significance |
| rs2470837191 | 3:54,157,579 | A/C | — | uncertain significance |
| rs550225880 | 3:54,157,587 | C/T | — | uncertain significance |
| rs368176101 | 3:54,157,590 | C/T | — | uncertain significance |
| rs371636598 | 3:54,157,609 | G/C | — | uncertain significance |
| rs201585683 | 3:54,157,610 | C/G | — | uncertain significance |
| rs61578424 | 3:54,160,326 | G/T | intron variant | — |
| rs1562686 | 3:54,166,320 | C/G | intron variant | — |
| rs78080987 | 3:54,228,328 | C/A | intron variant | — |
| rs116550666 | 3:54,228,821 | C/G | intron variant | — |
| rs57945354 | 3:54,332,447 | T/G | intron variant | — |
| rs373831427 | 3:54,354,580 | G/A | — | uncertain significance |
| rs78970585 | 3:54,373,419 | C/G | intron variant | — |
| rs11711956 | 3:54,378,600 | A/G | intron variant | — |
| rs201007417 | 3:54,420,748 | G/A | — | uncertain significance |
| rs1868505 | 3:54,421,255 | T/C | intron variant | — |
| rs1868502 | 3:54,427,242 | C/T | intron variant | — |
| rs9882553 | 3:54,463,890 | G/T | intron variant | — |
| rs9882299 | 3:54,463,904 | C/T | intron variant | — |
| rs1375515 | 3:54,476,640 | C/T | intron variant | — |
| rs572175899 | 3:54,498,534 | A/G | — | — |
| rs13074914 | 3:54,530,585 | G/T | — | — |
| rs759569667 | 3:54,596,861 | A/C | — | uncertain significance |
| rs977524451 | 3:54,596,880 | G/A | — | uncertain significance |
| rs759641140 | 3:54,596,931 | G/A | — | uncertain significance |
| rs41277449 | 3:54,596,967 | A/C | — | benign |
| rs372114533 | 3:54,603,823 | G/T | — | likely benign |
| rs1428009996 | 3:54,603,874 | C/A | — | uncertain significance |
| rs907676137 | 3:54,615,849 | A/C | — | uncertain significance |
| rs186772682 | 3:54,615,874 | T/G | — | benign |
| rs1405202114 | 3:54,615,890 | A/G | — | uncertain significance |
| rs13064588 | 3:54,632,547 | T/A | intron variant | — |
| rs56247223 | 3:54,642,228 | G/A | intron variant | — |
| rs185055678 | 3:54,661,868 | A/G | — | uncertain significance |
| rs35593475 | 3:54,661,890 | A/G | — | uncertain significance |
| rs746575268 | 3:54,676,216 | C/T | — | uncertain significance |
| rs2471104420 | 3:54,676,242 | G/A | — | uncertain significance |
| rs140581181 | 3:54,760,915 | G/A | intron variant | — |
| rs187398351 | 3:54,776,896 | A/G | intron variant | — |
| rs774970916 | 3:54,798,281 | A/G | — | uncertain significance |
| rs762052843 | 3:54,798,283 | G/C | — | uncertain significance |
| rs901300417 | 3:54,798,317 | G/A | — | uncertain significance |
| rs748837593 | 3:54,798,331 | G/A | — | uncertain significance |
| rs371418911 | 3:54,798,373 | A/G | — | uncertain significance |
| rs1820616 | 3:54,800,316 | T/G | — | — |
| rs200268240 | 3:54,850,905 | C/T | — | likely benign |
| rs17054453 | 3:54,871,179 | C/T | — | benign |
| rs764440009 | 3:54,871,189 | A/G | — | likely benign |
| rs761846307 | 3:54,871,192 | G/C | — | uncertain significance |
| rs373771779 | 3:54,871,206 | C/T | — | likely benign |
| rs2470890973 | 3:54,871,229 | T/A | — | uncertain significance |
| rs1219337311 | 3:54,880,424 | G/A | — | uncertain significance |
| rs776240200 | 3:54,905,557 | C/G | — | likely benign |
| rs36098777 | 3:54,905,568 | C/T | — | benign |
| rs776470130 | 3:54,905,639 | G/A | — | uncertain significance |
| rs2470924201 | 3:54,914,848 | C/A | — | uncertain significance |
| rs1699904062 | 3:54,919,580 | C/G | — | uncertain significance |
| rs2470945589 | 3:54,922,012 | C/T | — | uncertain significance |
| rs2470945597 | 3:54,922,016 | T/G | — | uncertain significance |
| rs377667754 | 3:54,922,020 | C/T | — | likely benign |
| rs899926520 | 3:54,922,028 | T/C | — | uncertain significance |
| rs1235716451 | 3:54,922,033 | G/A | — | uncertain significance |
| rs1395948016 | 3:54,925,416 | G/A | — | uncertain significance |
| rs112362995 | 3:54,925,426 | T/C | — | benign |
| rs776819421 | 3:54,925,431 | C/G | — | uncertain significance |
| rs765825655 | 3:54,925,447 | T/C | — | uncertain significance |
| rs753207068 | 3:54,925,449 | T/C | — | uncertain significance |
| rs751987684 | 3:54,925,464 | C/G | — | uncertain significance |
| rs781084360 | 3:54,930,795 | G/A | — | uncertain significance |
| rs35430406 | 3:54,930,815 | C/T | — | likely benign |
| rs1700200246 | 3:54,930,822 | C/T | — | uncertain significance |
| rs1469169292 | 3:54,930,833 | C/G | — | likely benign |
| rs1009964575 | 3:54,933,868 | G/A | — | uncertain significance |
| rs41277457 | 3:54,933,872 | A/G | — | likely benign |
| rs201869172 | 3:55,003,851 | T/C | — | uncertain significance |
| rs3773582 | 3:55,017,749 | A/T | — | — |
| rs142225782 | 3:55,021,706 | A/G | — | uncertain significance |
| rs371792332 | 3:55,021,712 | T/C | — | likely benign |
| rs4955826 | 3:55,035,874 | C/T | regulatory region variant | — |
| rs375857915 | 3:55,038,829 | C/A | — | uncertain significance |
| rs79458991 | 3:55,038,841 | C/T | — | likely benign |
| rs775717340 | 3:55,038,842 | G/A | — | uncertain significance |
| rs1703128887 | 3:55,041,836 | C/T | — | uncertain significance |
| rs941796977 | 3:55,041,862 | C/T | — | uncertain significance |
| rs539006808 | 3:55,043,411 | T/C | — | likely benign |
| rs142687394 | 3:55,043,415 | G/T | — | likely benign |
| rs202212742 | 3:55,043,440 | A/G | — | uncertain significance |
| rs1260988475 | 3:55,043,455 | G/A | — | uncertain significance |
| rs368830181 | 3:55,052,305 | A/G | — | uncertain significance |
| rs2471293164 | 3:55,107,501 | G/A | — | uncertain significance |
| rs1447772102 | 3:55,107,555 | C/T | — | not provided |
| rs1704865207 | 3:55,107,557 | A/G | — | uncertain significance |
Showing 100 of 105 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.