Gene Variant Detail

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Gene CALR
Variant K385Nfs*47
Impact List frameshift
Protein Effect gain of function
Gene Variant Descriptions CALR K385Nfs*47 indicates a shift in the reading frame starting at amino acid 385 and terminating 47 residues downstream, resulting in premature truncation of the functional protein and extension of the 417aa Calr protein length by 15 amino acids (UniProt.org). K385Nfs*47 (reported as K385fs*47) results in activation of JAK-STAT signaling and is transforming in cell culture (PMID: 26817954, PMID: 26987905, PMID: 26668133).
Associated Drug Resistance

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Transcript NM_004343
gDNA chr19:g.12943813_12943814insCCGGC
cDNA c.1154_1155insCCGGC
Protein p.K385Nfs*47
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004343 chr19:g.12943813_12943814insCCGGC c.1154_1155insCCGGC p.K385Nfs*47 RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 - Cohort 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
Molecular Profile Protein Effect Treatment Approaches
CALR K385Nfs*47 gain of function JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor - ATP competitive