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Gene | ALK |
Variant | E1210K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK E1210K lies within the protein kinase domain of the Alk protein (UniProt.org). E1210K has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 29650534, PMID: 35123209, PMID: 27432227), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK E1210K |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220723C>T |
cDNA | c.3628G>A |
Protein | p.E1210K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220723C>T | c.3628G>A | p.E1210K | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220723C>T | c.3628G>A | p.E1210K | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220723C>T | c.3628G>A | p.E1210K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK E1210K | lung non-small cell carcinoma | predicted - resistant | Ensartinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with non-small cell lung cancer progressed on Ensartinib (X-396) treatment and was found to have acquired ALK E1210K and lost ALK L1152V and G1269A in plasma cell-free DNA (PMID: 31446141). | 31446141 |
ALK E1210K | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK E1210K in an in vitro assay (PMID: 34158340). | 34158340 |