Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene CALR
Variant L367fs
Impact List frameshift
Protein Effect gain of function
Gene Variant Descriptions 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).
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_004343
gDNA chr19:g.(12943757_12943758)
cDNA c.(1099_1098)
Protein p.L367fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004343 chr19:g.(12943757_12943758) c.(1099_1098) p.L367fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
CALR L367fs gain of function JAK2 Inhibitor - ATP competitive
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 myelofibrosis predicted - sensitive Fedratinib Case Reports/Case Series Actionable In a clinical study, two 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 Inrebic (fedratinib) (PMID: 24645956). 24645956
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 Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of transformed cells expressing CALR L367fs in culture (PMID: 26668133). 26668133