Gene Accession
Q9UM73
Gene Alias
Protein names Recommended name ALK tyrosine kinase receptor Curated EC number EC:2.7.10.1 2 Publications (UniProtKB | ENZYME | Rhea) Alternative names Anaplastic lymphoma kinase 1 Publication CD Antigen Name CD246 Gene names Name ALK
Background
ALK F1174L is present in 0.06% of AACR GENIE cases, with neuroblastoma, lung adenocarcinoma, ganglioneuroblastoma, and poorly differentiated non-small cell lung cancer having the greatest prevalence. ALK F1174L lies within the protein kinase domain of the Alk protein (UniProt.org). F1174L confers a gain of function to the Alk protein as indicated by transformation activity and increased cell proliferation in culture (PMID: 18923525, PMID: 29533785, PMID: 29907598), and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 21030459, PMID: 31452835).