CALR NP_004334.1:p.K385fs*47

Preferred Label : CALR NP_004334.1:p.K385fs*47;

NCIt synonyms : CALR Type 2 Protein Variant; ERp60 Lys385fs*47; grp60 Lys385fs*47; Calreticulin Lys385fs*47; CRP55 K385fs*47; CALR Lys385fs*47; Endoplasmic Reticulum Resident Protein 60 Lys385fs*47; NP_004334.1:p.K385fs*47; CALR K385fs*47; CALR NP_004334.1:p.Lys385fs*47; Endoplasmic Reticulum Resident Protein 60 K385fs*47; ERp60 K385fs*47; CALR p.Lys385fs*47; CALR2 Protein Variant; Calregulin Lys385fs*47; grp60 K385fs*47; CALR p.K385fs*47; HACBP Lys385fs*47; HACBP K385fs*47; NP_004334.1:p.Lys385fs*47; Calreticulin K385fs*47; Type 2 CALR Protein Variant; Calregulin K385fs*47; CRP55 Lys385fs*47;

NCIt definition : A change in the amino acid composition of the calreticulin protein where a frameshift mutation results in the insertion of 46 non-canonic amino acids followed by a stop codon immediately after the lysine residue at position 385.;

NCI Metathesaurus CUI : CL512926;

PubMed : 24569778;

Details

Origin ID

C129838;

UMLS CUI

C4329501;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- CALR Gene Mutation [NCIt concept]
- CALR NM_004343.3:c.1154_1155insTTGTC [NCIt concept]
gene_product_variant_of_gene_product
- Calreticulin [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients