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ALK L1196P - Gene Variant Detail

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Gene ALK
Variant L1196P
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ALK L1196P lies within the protein kinase domain of the Alk protein (UniProt.org). L1196P results in both increased phosphorylation of Alk and proliferation, and has been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK in culture (PMID: 38448512), and therefore, is predicted to lead to a gain of Alk protein function.
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK act mut ALK L1196P

ALK mutant ALK L1196X ALK L1196P

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Transcript NM_004304.5
gDNA chr2:g.29220764A>G
cDNA c.3587T>C
Protein p.L1196P
Source Database RefSeq
Genome Build GRCh38/hg38

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