Gene Detail

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Gene Symbol CALR
Synonyms cC1qR | CRT | HEL-S-99n | RO | SSA
Gene Description CALR, calreticulin, is a Ca2+ binding chaperone protein that plays a role in multiple biological processes, including protein folding and quality control, calcium homeostasis, immune response, cell adhesion and migration, and cell signaling (PMID: 19940256, PMID: 28470469, PMID: 22959412). CALR frameshift mutations have been identified in myeloproliferative neoplasms, including essential thrombocytothemia and myelofibrosis (PMID: 24365789, PMID: 28470469).

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Molecular Profile Protein Effect Treatment Approaches
CALR act mut gain of function JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor - ATP competitive
CALR D244G unknown
CALR D309Y unknown
CALR D335N unknown
CALR D392_D394del unknown
CALR D394_K401delinsE unknown
CALR D415E unknown
CALR D45Y unknown
CALR E100Q unknown
CALR E234K unknown
CALR E240D unknown
CALR E298* unknown
CALR E341G unknown
CALR E380fs unknown
CALR E380Gfs*50 unknown
CALR E381Q unknown
CALR E386G unknown
CALR E389D unknown
CALR E389K unknown
CALR E398_D400del unknown
CALR E403* unknown
CALR E406Q unknown
CALR F132L unknown
CALR F56L unknown
CALR G343D unknown
CALR K385fs gain of function JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor - ATP competitive
CALR K385Nfs*47 gain of function JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor - ATP competitive
CALR K414E unknown
CALR K62R unknown
CALR K64T unknown
CALR L367fs gain of function JAK2 Inhibitor - ATP competitive
CALR L367Tfs*46 gain of function JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor - ATP competitive
CALR L51V unknown
CALR mutant unknown
ASXL1 wild-type CALR mut
ASXL1 mut CALR mut
CALR N158D unknown
CALR N188D unknown
CALR P204S unknown
CALR P410L unknown
CALR Q67H unknown
CALR R177W unknown
CALR S189T unknown
CALR S300Y unknown
CALR S323F unknown
CALR T173fs unknown
CALR T325I unknown
CALR wild-type no effect
CALR wild-type JAK2 wild-type MPL wild-type
ASXL1 mut CALR wild-type
ASXL1 wild-type CALR wild-type
CALR Y128C unknown