Gene Variant Detail

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Gene CALR
Variant E389D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CALR E389D lies within the C-domain region of the Calr protein (UniProt.org). E389D has been identified in the scientific literature (PMID: 29218307), but has not been biochemically characterized and therefore, its effect on Calr protein function is unknown (PubMed, Feb 2020).
Associated Drug Resistance

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Transcript NM_004343
gDNA chr19:g.12943826G>C
cDNA c.1167G>C
Protein p.E389D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004343 chr19:g.12943826G>C c.1167G>C p.E389D RefSeq GRCh38/hg38

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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 E389D unknown