CDKN2A NP_000068.1:p.L130Q

Preferred Label : CDKN2A NP_000068.1:p.L130Q;

NCIt synonyms : CDKN2A p.Leu130Gln; Cyclin-Dependent Kinase Inhibitor 2A Protein Variant Leu130Gln; NP_000068.1:p.L130Q; p16INK4A Protein Variant Leu130Gln; CDK4I Protein Variant Leu130Gln; p16(INK4a) Protein Variant L130Q; CDKN2A L130Q; CDKN2A p.L130Q; p16-INK4 Protein Variant Leu130Gln; Cyclin-Dependent Kinase 4 Inhibitor A Protein Variant Leu130Gln; Cyclin-Dependent Kinase Inhibitor p16 Protein Variant Leu130Gln; Cyclin-Dependent Kinase Inhibitor 2A Protein Variant L130Q; CDKN2A NP_000068.1:p.Leu130Gln; p16INK4A Protein Variant L130Q; CDK4I Protein Variant L130Q; p16-INK4 Protein Variant L130Q; NP_000068.1:p.Leu130Gln; Cyclin-Dependent Kinase Inhibitor p16 Protein Variant L130Q; Cyclin-Dependent Kinase 4 Inhibitor A Protein Variant L130Q; p16(INK4a) Protein Variant Leu130Gln; CDKN2A Leu130Gln;

NCIt definition : A change in the amino acid residue at position 130 in the cyclin-dependent kinase inhibitor 2 protein where leucine has been replaced by glutamine.;

NCI Metathesaurus CUI : CL544981;

Details

Origin ID

C146946;

UMLS CUI

C4687593;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- CDKN2A Gene Mutation [NCIt concept]
- CDKN2A NM_000077.4:c.389T>A [NCIt concept]
gene_product_variant_of_gene_product
- CDKN2A Gene Product [NCIt concept]
- Cyclin-Dependent Kinase Inhibitor 2A [NCIt concept]
molecular_abnormality_involves_gene
- CDKN2A Gene [NCIt concept]

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