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|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).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||CALR act mut indicates that this variant results in a gain of function in the Calr protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||CALR mutant indicates an unspecified mutation in the CALR gene.|