Gene Variant Detail

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Gene CALR
Variant E380Gfs*50
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CALR E380Gfs*50 indicates a shift in the reading frame starting at amino acid 380 and terminating 50 residues downstream, resulting in premature truncation of the functional protein and extension of the 417aa Calr protein length by 13 amino acids (UniProt.org). E380Gfs*50 has been identified in the scientific literature (PMID: 30805227), but has not been biochemically characterized and therefore, its effect on Calr protein function is unknown (PubMed, Dec 2019).
Associated Drug Resistance

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Transcript NM_004343
gDNA chr19:g.12943798delA
cDNA c.1139delA
Protein p.E380Gfs*50
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004343 chr19:g.12943798delA c.1139delA p.E380Gfs*50 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 E380Gfs*50 unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References