EGFR PACC Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the EGFR gene that encodes either the glycine-rich phosphate binding loop (P-loop) or the regulatory C-terminal loop of the alpha-C helix, which are both involved in ATP binding, and results in constitutive protein-tyrosine kinase activity for the epidermal growth factor receptor protein. Amino acid variations in the P-loop and alpha-C helix can cause compression in the structure of the amino (N)-terminal lobe in the active site of the intracellular tyrosine kinase domain of the epidermal growth factor receptor protein.

**Synonyms:** - EGFR P-Loop and Alpha-C Helix Compressing Mutation - EGFR P-Loop and aC-Helix Compressing Mutation - EGFR PACC Mutation - EGFR PACC Mutation - ERBB PACC Gene Mutation - ERBB1 PACC Gene Mutation - Epidermal Growth Factor Receptor Gene PACC Mutation