ERBB2 Protein Variant

Preferred Label : ERBB2 Protein Variant;

NCIt synonyms : Receptor Tyrosine-Protein Kinase erbB-2 Protein Variant; Proto-Oncogene Neu Protein Variant; Tyrosine Kinase-Type Cell Surface Receptor HER2 Protein Variant;

NCIt definition : A variation in the amino acid sequence for the receptor tyrosine-protein kinase erbB-2 protein.;

Details

Origin ID

C98358;

UMLS CUI

C3274005;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- Activating ERBB2 Mutation [NCIt concept]
- ERBB2 Exon 20 Insertion Mutation [NCIt concept]
- ERBB2 Exon 20 Mutation [NCIt concept]
- ERBB2 Gene Mutation [NCIt concept]
- ERBB2 NM_004448.2:c.2324_2325ins12 [NCIt concept]
- ERBB2 NM_004448.2:c.2325_2326ins12 [NCIt concept]
- ERBB2 NM_004448.3:c.2305G>C [NCIt concept]
- ERBB2 NM_004448.3:c.2305G>T [NCIt concept]
- ERBB2 NM_004448.3:c.962A>G [NCIt concept]
- Inactivating ERBB2 Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Receptor Tyrosine-Protein Kinase erbB-2 [NCIt concept]
molecular_abnormality_involves_gene
- ERBB2 Gene [NCIt concept]

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