Gene Detail

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 neoplams, including essential thrombocytothemia and myelofibrosis (PMID: 24365789, PMID: 28470469).
Entrez Id 811
Chromosome 19
Map Location 19p13.13
Canonical Transcript NM_004343

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E403* nonsense unknown CALR E403* results in a premature truncation of the Calr protein at amino acid 403 of 417 (UniProt.org). E403* has been identified in sequencing studies (PMID: 23297126), but has not been biochemically characterized and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
F132L missense unknown CALR F132L lies within the N-domain region of the Calr protein (UniProt.org). F132L has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
Y128C missense unknown CALR Y128C lies within the N-domain region of the Calr protein (UniProt.org). Y128C has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
F56L missense unknown CALR F56L lies within the N-domain region of the Calr protein (UniProt.org). F56L has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
K414E missense unknown CALR K414E lies within the C-domain region of the Calr protein (UniProt.org). K414E has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
P410L missense unknown CALR P410L lies within the C-domain region of the Calr protein (UniProt.org). P410L has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E381Q missense unknown CALR E381Q lies within the C-domain region of the Calr protein (UniProt.org). E381Q has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
mutant unknown unknown CALR mutant indicates an unspecified mutation in the CALR gene.
D394_K401delinsE indel unknown CALR D394_K401delinsE results in a deletion of eight amino acids from amino acids 394 to 402 within the C-domain region of the Calr protein, combined with the insertion of a glutamate (E) at the same site (UniProt.org). D394_K401delinsE has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
S189T missense unknown CALR S189T lies within the N-domain region of the Calr protein (UniProt.org). S189T has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
D244G missense unknown CALR D244G lies within the 4 X approximate repeat region of the Calr protein (UniProt.org). D244G has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
G343D missense unknown CALR G343D lies within the C-domain region of the Calr protein (UniProt.org). G343D has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E406Q missense unknown CALR E406Q lies within the C-domain region of the Calr protein (UniProt.org). E406Q has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
P204S missense unknown CALR P204S lies within the P-domain region of the Calr protein (UniProt.org). P204S has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E298* nonsense unknown CALR E298* results in a premature truncation of the Calr protein at amino acid 298 of 417 (UniProt.org). E298* has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E386G missense unknown CALR E386G lies within the C-domain region of the Calr protein (UniProt.org). E386G has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E234K missense unknown CALR E234K lies within the 4 X approximate repeat region of the Calr protein (UniProt.org). E234K has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
S300Y missense unknown CALR S300Y lies within the P-domain region of the Calr protein (UniProt.org). S300Y has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
R177W missense unknown CALR R177W lies within the N-domain region of the Calr protein (UniProt.org). R177W has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
S323F missense unknown CALR S323F lies within the C-domain region of the Calr protein (UniProt.org). S323F has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
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.
E398_D400del deletion unknown CALR E398_D400del results in the deletion of three amino acids in the C-domain region of the Calr protein from amino acids 398 to 400 (UniProt.org). E398_D400del has been identified in the scientific literature (PMID: 25729726), but has not been biochemically characterized and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
Q67H missense unknown CALR Q67H lies within the N-domain region of the Calr protein (UniProt.org). Q67H has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
D45Y missense unknown CALR D45Y lies within the N-domain region of the Calr protein (UniProt.org). D45Y has been identified in sequencing studies (PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
N188D missense unknown CALR N188D lies within the N-domain region of the Calr protein (UniProt.org). N188D has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
T325I missense unknown CALR T325I lies within the C-domain region of the Calr protein (UniProt.org). T325I has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
D309Y missense unknown CALR D309Y lies within the C-domain region of the Calr protein (UniProt.org). D309Y has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E389K missense unknown CALR E389K lies within the C-domain region of the Calr protein (UniProt.org). E389K has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E100Q missense unknown CALR E100Q lies within the N-domain region of the Calr protein (UniProt.org). E100Q has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
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, Jan 2018).
E240D missense unknown CALR E240D lies within the 4 X approximate repeat region of the Calr protein (UniProt.org). E240D has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
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).
E341G missense unknown CALR E341G lies within the C-domain region of the Calr protein (UniProt.org). E341G has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
L51V missense unknown CALR L51V lies within the N-domain region of the Calr protein (UniProt.org). L51V has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
D392_D394del deletion unknown CALR D392_D394del results in the deletion of three amino acids in the C-domain region of the Calr protein from amino acids 392 to 394 (UniProt.org). D392_D394del has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
E389D missense unknown CALR E389D lies within the C-domain region of the Calr protein (UniProt.org). E389D has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
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).
K62R missense unknown CALR K62R lies within the N-domain region of the Calr protein (UniProt.org). K62R has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
D415E missense unknown CALR D415E lies within the C-domain region of the Calr protein (UniProt.org). D415E has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
N158D missense unknown CALR N158D lies within the N-domain region of the Calr protein (UniProt.org). N158D has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
wild-type none no effect Wild-type CALR indicates that no mutation has been detected within the CALR gene.
D335N missense unknown CALR D335N lies within the C-domain region of the Calr protein (UniProt.org). D335N has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
K64T missense unknown CALR K64T lies within the N-domain region of the Calr protein (UniProt.org). K64T has not been characterized in the scientific literature and therefore, its effect on Calr protein function is unknown (PubMed, Jan 2018).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ASXL1 mut CALR mut myelofibrosis not applicable N/A Guideline Prognostic The presence of a CALR mutation combined with an ASXL1 mutation is associated with intermediate survival in patients with myelofibrosis (NCCN.org). detail...
ASXL1 wild-type CALR mut myelofibrosis not applicable N/A Guideline Prognostic The presence of a CALR mutation combined with wild-type ASXL1 is associated with longer survival in patients with myelofibrosis (NCCN.org). detail...
CALR mutant myelofibrosis not applicable N/A Guideline Prognostic CALR mutations are associated with improved survival when compared to JAK2 mutations or concurrent wild-type CALR, MPL, and JAK2 in patients with primary myelofibrosis (NCCN.org). detail...
CALR mutant bone marrow cancer predicted - sensitive Alpha 2 Interferon Clinical Study Actionable In a clinical study, Roferon-A (Alpha 2 Interferon) treatment resulted in hematologic response in 100% (31/31) and complete molecular response in 6% (2/31) of essential thrombocythemia (ET) patients harboring CALR mutations (PMID: 26486786). 26486786
CALR mutant bone marrow cancer not applicable N/A Clinical Study Diagnostic CALR mutations are used in the diagnosis of myeloproliferative neoplasms, especially of essential thrombocythemia and primary myelofibrosis (PMID: 26697989, PMID: 26449662, PMID: 26071474, PMID: 25873496). 26697989 25873496 26449662 26071474
CALR L367fs myelofibrosis not applicable N/A Guideline Prognostic The presence of the CALR type 1 mutation, L367fs, or a type 1-like mutation is associated with improved overall survival compared to a CALR type 2 (K385fs) or CALR type 2-like mutation and JAK2 V617F in patients with myelofibrosis (NCCN.org). detail...
CALR L367fs hematologic cancer sensitive Ruxolitinib + Temsirolimus Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) and Torisel (temsirolimus) acted synergistically to inhibit growth of transformed cells expressing CALR L367fs in culture (PMID: 26668133). 26668133
CALR L367fs hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of transformed cells expressing CALR L367fs in culture (PMID: 26668133). 26668133
CALR L367fs myelofibrosis predicted - sensitive SAR302503 Clinical Study Actionable In a clinical study, 2 myelofibrosis patients harboring CALR L367fs (reported as L367fs*46 for patient 1 and L367fs*48 for patient 2) and wild-type JAK2 demonstrated a greater than 50% reduction in spleen size following treatment with Fedratinib (SAR302503) (PMID: 24645956). 24645956
CALR K385fs hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of transformed cells expressing CALR L385fs in culture (PMID: 26668133). 26668133
CALR wild-type JAK2 wild-type MPL wild-type myelofibrosis not applicable N/A Guideline Prognostic The presence of concurrent wild-type JAK2, MPL, and CALR in myelofibrosis patients is associated with inferior leukemia-free survival compared to patients with JAK2 and/or CALR mutations, and is associated with inferior overall survival when compared to patients with CALR mutations (NCCN.org). detail...
ASXL1 mut CALR wild-type myelofibrosis not applicable N/A Guideline Prognostic The presence of an ASXL1 mutation combined with wild-type CALR is associated with shorter survival in patients with myelofibrosis (NCCN.org). detail...