GNAS NP_000507.1:p.Q227E

Preferred Label : GNAS NP_000507.1:p.Q227E;

NCIt synonyms : GNAS NP_000507.1:p.Gln227Glu; Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short Q227E; NP_000507.1:p.Q227E; Adenylate Cyclase-Stimulating G Alpha Protein Q227E; Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short Gln227Glu; NP_000507.1:p.Gln227Glu; Adenylate Cyclase-Stimulating G Alpha Protein Gln227Glu; GNAS Q227E; GNAS p.Q227E; GNAS Gln227Glu; GNAS p.Gln227Glu;

NCIt definition : A change in the amino acid residue at position 227 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where glutamine has been replaced by glutamic acid.;

NCI Metathesaurus CUI : CL544972;

Details

Origin ID

C146969;

UMLS CUI

C4687614;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- GNAS Gene Mutation [NCIt concept]
- GNAS NM_000516.5:c.679C>G [NCIt concept]
gene_product_variant_of_gene_product
- GNAS Gene Product [NCIt concept]
- Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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