Gene Variant Detail

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Gene ALK
Variant A348D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK A348D lies within the MAM domain 1 of the Alk protein (UniProt.org). A384D confers a gain of function to the Alk protein as demonstrated by increased cell proliferation in the absence of growth factor and colony formation in culture (PMID: 26032424).
Associated Drug Resistance

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Transcript NM_004304
gDNA chr2:g.29532026G>T
cDNA c.1043C>A
Protein p.A348D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29532026G>T c.1043C>A p.A348D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK A348D hematologic cancer sensitive Ceritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ALK A348D were sensitive to treatment with Zykadia (ceritinib) in culture, demonstrating decreased cell viability (PMID: 26032424). 26032424
ALK A348D hematologic cancer sensitive GSK1838705A Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ALK A348D were sensitive to treatment with GSK1838705A in culture, demonstrating decreased cell viability (PMID: 26032424). 26032424
ALK A348D hematologic cancer sensitive Brigatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ALK A348D were sensitive to treatment with Alunbrig (brigatinib) in culture, demonstrating decreased cell viability (PMID: 26032424). 26032424
ALK A348D hematologic cancer sensitive Crizotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ALK A348D were sensitive to treatment with Xalkori (crizotinib) in culture, demonstrating decreased cell viability (PMID: 26032424). 26032424
ALK A348D hematologic cancer sensitive TAE684 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ALK A348D were sensitive to treatment with TAE684 in culture, demonstrating decreased cell viability (PMID: 26032424). 26032424
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK mutant lung non-small cell carcinoma no benefit Crizotinib + Onalespib Phase II Actionable In a Phase II trial, Onalespib (AT13387) and Xalkori (crizotinib) combination treatment did not significantly improve median progression free survival (269 vs 266 days) or objective response rate (55.4%, 38/68 vs 45.3%, 31/68) compared to Xalkori (crizotinib) single treatment in patients with non-small cell lung carcinoma harboring either an ALK mutation or ALK rearrangement (J Clin Oncol 34, 2016 (suppl; abstr 9059); NCT01712217). detail...
Molecular Profile Protein Effect Treatment Approaches
ALK A348D gain of function ALK Inhibitor