CAPN14
calpain 14
Summary
Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149432880 | 2:31,394,076 | T/C | — | uncertain significance |
| rs2466869066 | 2:31,397,564 | T/C | — | uncertain significance |
| rs796773681 | 2:31,397,570 | T/C | — | uncertain significance |
| rs2466874471 | 2:31,399,471 | T/C | — | uncertain significance |
| rs1163892156 | 2:31,399,481 | C/A | — | uncertain significance |
| rs958770584 | 2:31,399,898 | T/C | — | uncertain significance |
| rs2466876838 | 2:31,399,914 | C/A | — | uncertain significance |
| rs938587115 | 2:31,399,916 | T/C | — | uncertain significance |
| rs562117174 | 2:31,399,918 | A/C | — | uncertain significance |
| rs1346211287 | 2:31,399,924 | A/T | — | uncertain significance |
| rs1206528913 | 2:31,399,966 | C/A | — | uncertain significance |
| rs147193488 | 2:31,400,632 | T/C | — | likely benign |
| rs376853592 | 2:31,400,633 | G/A | — | uncertain significance |
| rs144558381 | 2:31,400,666 | G/C | — | uncertain significance |
| rs184932565 | 2:31,401,412 | A/G | — | uncertain significance |
| rs143457388 | 2:31,402,370 | T/A | intron variant | — |
| rs567885099 | 2:31,403,035 | A/G | — | — |
| rs1434157753 | 2:31,410,641 | T/A | — | uncertain significance |
| rs1287507820 | 2:31,410,679 | T/A | — | uncertain significance |
| rs1484266596 | 2:31,411,195 | C/T | — | uncertain significance |
| rs199725219 | 2:31,412,209 | G/A | — | uncertain significance |
| rs1290429590 | 2:31,412,314 | C/T | — | uncertain significance |
| rs530696374 | 2:31,413,148 | T/G | — | — |
| rs181906086 | 2:31,414,830 | G/A | — | conflicting classifications of pathogenicity |
| rs1320588177 | 2:31,414,833 | G/T | — | uncertain significance |
| rs755805271 | 2:31,414,845 | G/A | — | uncertain significance |
| rs1167740802 | 2:31,414,878 | C/T | — | uncertain significance |
| rs895207290 | 2:31,414,911 | C/A | — | uncertain significance |
| rs200803860 | 2:31,414,919 | G/A | — | uncertain significance |
| rs183489015 | 2:31,416,120 | C/T | — | uncertain significance |
| rs372898726 | 2:31,416,135 | G/A | — | uncertain significance |
| rs190684376 | 2:31,416,155 | G/A | — | uncertain significance |
| rs759822858 | 2:31,417,280 | T/A | — | uncertain significance |
| rs746998908 | 2:31,420,124 | C/A | — | uncertain significance |
| rs76399854 | 2:31,420,161 | G/A | — | uncertain significance |
| rs1248575988 | 2:31,420,190 | T/C | — | uncertain significance |
| rs1681518159 | 2:31,420,200 | C/G | — | uncertain significance |
| rs1443936377 | 2:31,422,342 | G/C | — | uncertain significance |
| rs2466950449 | 2:31,422,367 | C/A | — | uncertain significance |
| rs1225456856 | 2:31,423,337 | C/T | — | uncertain significance |
| rs777345038 | 2:31,423,346 | T/C | — | uncertain significance |
| rs372312550 | 2:31,423,364 | C/T | — | likely benign |
| rs746140880 | 2:31,423,484 | C/A | — | uncertain significance |
| rs143870740 | 2:31,423,488 | G/A | — | benign |
| rs773533303 | 2:31,424,763 | C/A | — | uncertain significance |
| rs552440865 | 2:31,424,769 | C/G | — | uncertain significance |
| rs907664814 | 2:31,424,771 | T/C | — | uncertain significance |
| rs2466959266 | 2:31,424,806 | T/G | — | uncertain significance |
| rs534770060 | 2:31,424,807 | C/T | — | uncertain significance |
| rs759802764 | 2:31,424,821 | C/T | — | uncertain significance |
| rs2466959357 | 2:31,424,825 | C/T | — | uncertain significance |
| rs764024066 | 2:31,425,008 | G/A | — | uncertain significance |
| rs191803963 | 2:31,425,056 | C/T | — | uncertain significance |
| rs532403679 | 2:31,425,058 | C/T | — | uncertain significance |
| rs182812741 | 2:31,425,059 | G/A | — | uncertain significance |
| rs1242946447 | 2:31,425,070 | T/C | — | uncertain significance |
| rs1380733263 | 2:31,425,109 | C/A | — | uncertain significance |
| rs1363903490 | 2:31,428,144 | C/T | — | uncertain significance |
| rs979380945 | 2:31,428,148 | T/C | — | uncertain significance |
| rs1461862362 | 2:31,428,163 | C/T | — | uncertain significance |
| rs773338913 | 2:31,428,273 | G/C | — | likely benign |
| rs58672755 | 2:31,435,169 | G/T | — | — |
| rs6755194 | 2:31,443,661 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.