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Gene | ALK |
Variant | E1154K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK E1154K lies within the protein kinase domain of the Alk protein (UniProt.org). E1154K has been identified in the scientific literature (PMID: 31585938), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2023). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK E1154K |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222399C>T |
cDNA | c.3460G>A |
Protein | p.E1154K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29222399C>T | c.3460G>A | p.E1154K | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222399C>T | c.3460G>A | p.E1154K | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222399C>T | c.3460G>A | p.E1154K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK E1154K ALK G1202R ALK I1268V | lung adenocarcinoma | predicted - resistant | Crizotinib | Case Reports/Case Series | Actionable | In a clinical case study, Xalkori (crizotinib) treatment resulted in a partial response lasting 9.2 months in a patient with lung adenocarcinoma harboring EML4-ALK, at disease progression, ALK G1202R and ALK E1154K were identified in biopsies, while ALK G1202R and ALK I1268V were identified in ctDNA (PMID: 31585938). | 31585938 |
EML4 - ALK ALK E1154K ALK G1202R ALK I1268V | lung adenocarcinoma | predicted - resistant | Ceritinib | Case Reports/Case Series | Actionable | In a clinical case study, Zykadia (ceritinib) treatment resulted rapid disease progression in a patient with lung adenocarcinoma harboring EML4-ALK, with acquired ALK G1202R and ALK E1154K in tumor biopsies, and ALK G1202R and ALK I1268V in ctDNA (PMID: 31585938). | 31585938 |