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Gene CALR
Variant L367Tfs*46
Impact List frameshift
Protein Effect gain of function
Gene Variant Descriptions CALR L367Tfs*46 indicates a shift in the reading frame starting at amino acid 367 and terminating 46 residues downstream causing a premature truncation of the 417 amino acid Calr protein (UniProt.org). L367Tfs*46 (reported ad L367fs*46) results in activation of Jak-Stat signaling, is transforming in culture, and drives myeloproliferative neoplasm formation in animal models (PMID: 26668133, PMID: 26951227).
Associated Drug Resistance

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Transcript NM_004343
gDNA chr19:g.(12943758_12943898)
cDNA c.(1099_1239)
Protein p.L367Tfs*46
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004343 chr19:g.(12943758_12943898) c.(1099_1239) p.L367Tfs*46 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 L367Tfs*46 gain of function JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor - ATP competitive
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References