CALR NP_004334.1:p.L367fs*46

Preferred Label : CALR NP_004334.1:p.L367fs*46;

NCIt synonyms : HACBP L367fs*46; CALR Type 1 Protein Variant; Calreticulin Leu367fs*46; Endoplasmic Reticulum Resident Protein 60 Leu367fs*46; Calreticulin L367fs*46; Type 1 CALR Protein Variant; ERp60 Leu367fs*46; grp60 Leu367fs*46; CRP55 Leu367fs*46; Calregulin Leu367fs*46; CALR Leu367fs*46; CALR p.Leu367fs*46; Endoplasmic Reticulum Resident Protein 60 L367fs*46; NP_004334.1:p.Leu367fs*46; CALR NP_004334.1:p.Leu367fs*46; ERp60 L367fs*46; CALR1 Protein Variant; grp60 L367fs*46; CRP55 L367fs*46; Calregulin L367fs*46; CALR L367fs*46; CALR p.L367fs*46; HACBP Leu367fs*46; NP_004334.1:p.L367fs*46; NP_004334.1p.Leu367Thrfs*46;

NCIt definition : A change in the amino acid composition of the calreticulin protein where a frameshift mutation results in the insertion of 45 non-canonic amino acids followed by a stop codon immediately after the leucine residue at position 367.;

NCI Metathesaurus CUI : CL512927;

PubMed : 24569778;

Details

Origin ID

C129837;

UMLS CUI

C4329502;

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.1092_1143del52 [NCIt concept]
gene_product_variant_of_gene_product
- Calreticulin [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

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