CALR
calreticulin
Summary
Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757911363 | 19:13,049,211 | C/A | — | likely benign |
| rs11878305 | 19:13,049,280 | A/C | — | benign |
| rs28365950 | 19:13,049,415 | C/T | — | likely benign |
| rs11547567 | 19:13,049,473 | T/C | — | benign |
| rs190251647 | 19:13,049,490 | C/T | — | benign |
| rs147368353 | 19:13,049,543 | C/T | — | uncertain significance |
| rs1199946705 | 19:13,049,581 | G/C | — | uncertain significance |
| rs764831280 | 19:13,049,957 | C/T | — | uncertain significance |
| rs546693081 | 19:13,049,970 | C/G | — | uncertain significance |
| rs764612484 | 19:13,050,004 | G/C | — | uncertain significance |
| rs138503495 | 19:13,050,026 | A/G | — | benign |
| rs7246836 | 19:13,050,090 | C/G | — | benign |
| rs7250381 | 19:13,050,201 | A/G | — | benign |
| rs1599659396 | 19:13,050,279 | G/T | — | likely benign |
| rs2512625690 | 19:13,050,310 | G/C | — | uncertain significance |
| rs370869315 | 19:13,050,325 | G/A | — | uncertain significance |
| rs114680213 | 19:13,050,710 | C/G | — | likely benign |
| rs187996595 | 19:13,051,071 | A/T | — | likely benign |
| rs956997728 | 19:13,051,100 | A/G | — | uncertain significance |
| rs147369833 | 19:13,051,130 | G/C | — | likely benign |
| rs775169572 | 19:13,051,150 | T/G | — | uncertain significance |
| rs79497711 | 19:13,051,170 | C/T | — | benign |
| rs200173883 | 19:13,051,211 | C/T | — | uncertain significance |
| rs149740908 | 19:13,051,246 | C/T | — | benign |
| rs144562269 | 19:13,051,402 | C/G | — | likely benign |
| rs74815302 | 19:13,051,549 | C/T | — | likely benign |
| rs184881678 | 19:13,051,554 | G/T | — | likely benign |
| rs367922867 | 19:13,051,558 | G/C | — | uncertain significance |
| rs907856910 | 19:13,051,577 | A/G | — | uncertain significance |
| rs770320546 | 19:13,051,631 | C/A | — | uncertain significance |
| rs73505370 | 19:13,051,829 | C/T | — | benign |
| rs73505373 | 19:13,051,991 | A/G | — | benign |
| rs56290054 | 19:13,054,112 | A/G | — | benign |
| rs140610430 | 19:13,054,401 | A/G | — | benign |
| rs755626585 | 19:13,054,421 | A/G | — | uncertain significance |
| rs143880510 | 19:13,054,615 | A/C | — | benign |
| rs1283919745 | 19:13,054,659 | G/A | — | uncertain significance |
| rs1049481 | 19:13,054,781 | T/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.