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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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.
E380fs frameshift unknown CALR E380fs results in a change in the amino acid sequence of the Calr protein beginning at aa 380 of 417, likely resulting in premature truncation of the functional protein (UniProt.org). E380fs has been identified in the scientific literature (PMID: 30805227), but has not been biochemically characterized and therefore, its effect on Calr protein function is unknown (PubMed, Jun 2020).
K385fs frameshift gain of function CALR K385fs (reported as K385fs*47) results in a change in the amino acid sequence of the Calr protein beginning at aa 385 of 417, likely resulting in premature truncation of the functional protein (UniProt.org). K385fs confers a gain of function to Calr, as indicated by activation of JAK-STAT signaling and is transforming in cell culture (PMID: 26817954, PMID: 26987905, PMID: 26668133).
L367fs frameshift gain of function CALR L367fs (reported as L367fs*46) results in a change in the amino acid sequence of the Calr protein beginning at aa 367 of 417, likely resulting in premature truncation of the functional protein (UniProt.org). L367fs*46 results in activation of Jak-Stat signaling, is transforming in culture, and drives myeloproliferative neoplasm formation in animal models (PMID: 26951227).
T173fs frameshift unknown CALR T173fs results in a change in the amino acid sequence of the Calr protein beginning at aa 173 of 417, likely resulting in a premature truncation of the functional protein (UniProt.org). T173fs has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Feb 2020).