Gene Variant Detail

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Gene ALK
Variant R1192P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK R1192P lies within the protein kinase domain of the Alk protein (UniProt.org). R1192P confers a gain of function to the Alk protein as demonstrated by increased downstream signalling (PMID: 21838707), activation in in vitro assays (PMID: 33674381, PMID: 25517749), and transformation of cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK R1192P

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Transcript NM_004304.5
gDNA chr2:g.29220776C>G
cDNA c.3575G>C
Protein p.R1192P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.29220776C>G c.3575G>C p.R1192P RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29220776C>G c.3575G>C p.R1192P RefSeq GRCh38/hg38
NM_004304 chr2:g.29220776C>G c.3575G>C p.R1192P RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
EML4 - ALK ALK R1192P Advanced Solid Tumor sensitive Crizotinib Preclinical - Cell culture Actionable In a preclinical study, Xalkori (crizotinib) inhibited the growth of transformed cells expressing EML4-ALK with ALK R1192P in culture (PMID: 27009859). 27009859
EML4 - ALK ALK R1192P Advanced Solid Tumor resistant Ceritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing EML4-ALK with ALK R1192P were resistant to Zykadia (ceritinib) mediated growth inhibition in culture (PMID: 27009859). 27009859
EML4 - ALK ALK R1192P Advanced Solid Tumor sensitive Alectinib Preclinical - Cell culture Actionable In a preclinical study, Alecensa (alectinib) inhibited growth of transformed cells overexpressing EML4-ALK with ALK R1192P in culture (PMID: 27009859). 27009859
EML4 - ALK ALK R1192P Advanced Solid Tumor sensitive Brigatinib Preclinical - Cell culture Actionable In a preclinical study, Alunbrig (brigatinib) inhibited the growth of transformed cells expressing EML4-ALK with ALK R1192P in culture (PMID: 27009859). 27009859
EML4 - ALK ALK R1192P Advanced Solid Tumor resistant ASP3026 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing EML4-ALK with ALK R1192P were resistant to ASP3026 mediated growth inhibition in culture (PMID: 27009859). 27009859
EML4 - ALK ALK R1192P Advanced Solid Tumor sensitive AZD3463 Preclinical - Cell culture Actionable In a preclinical study, AZD3463 inhibited the growth of transformed cells expressing EML4-ALK with ALK R1192P in culture (PMID: 27009859). 27009859
ALK I1171T ALK R1192P ALK L1196M ALK F1245V neuroblastoma predicted - resistant Lorlatinib Case Reports/Case Series Actionable In a Phase I trial, a neuroblastoma patient harboring ALK F1245V developed progressive disease on treatment with Lorbrena (lorlatinib) and was found to have acquired additional ALK variants, I1171T, R1192P, and L1196M, via circulating tumor DNA (PMID: 37147298; NCT03107988). 37147298
EML4 - ALK ALK G1128A ALK R1192P lung adenocarcinoma predicted - resistant Crizotinib Case Reports/Case Series Actionable In a clinical case study, ALK G1128A and ALK R1192P were identified in the post-progression biopsy of a patient with lung adenocarcinoma harboring EML4-ALK who previously responded to treatment with Xalkori (crizotinib) (PMID: 30089600). 30089600