Gene Variant Detail

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Gene SMO
Variant E518K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMO E518K lies within an extracellular domain of the Smo protein (UniProt.org). E518K has been described as a resistance mutation (PMID: 21123452), but has not been biochemically characterized and therefore, its effect on Smo protein function is unknown (PubMed, Apr 2020).
Associated Drug Resistance Y

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Transcript NM_005631.4
gDNA chr7:g.129210448G>A
cDNA c.1552G>A
Protein p.E518K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005631.4 chr7:g.129210448G>A c.1552G>A p.E518K RefSeq GRCh38/hg38
NM_005631 chr7:g.129210448G>A c.1552G>A p.E518K 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
SMO E518K Advanced Solid Tumor predicted - resistant MRT-92 Preclinical Actionable In a preclinical study, transformed human cells expressing SMO E518K displayed reduced binding to MRT-92 (PMID: 25636740). 25636740
SMO E518K Advanced Solid Tumor decreased response Sonidegib Preclinical Actionable In a preclinical study, transformed mouse fibroblast cells over expressing murine SMO E522K (corresponding to human SMO E518K) demonstrated decreased response to Odomzo (sonidegib) induced Hedgehog pathway inhibition in cell culture (PMID: 26823493). 26823493
SMO E518K Advanced Solid Tumor resistant Vismodegib Preclinical Actionable In a preclinical study, transformed mouse fibroblast cells over expressing murine SMO E522K (corresponding to human SMO E518K) were resistant to Erivedge (vismodegib) induced Hedgehog pathway inhibition in cell culture (PMID: 26823493). 26823493
SMO E518K Advanced Solid Tumor sensitive Posaconazole Preclinical Actionable In a preclinical study, Posaconazole inhibited Hedghog signaling in mouse fibroblasts over expressing murine SMO E522K (corresponding to human SMO E518K) in culture (PMID: 26823493). 26823493
SMO E518K Advanced Solid Tumor sensitive Arsenic trioxide + Posaconazole Preclinical Actionable In a preclinical study, combination of Posaconazole and Trisenox (Arsenic trioxide) demonstrated enhanced inhibition of Hedghog signaling in mouse fibroblasts over expressing murine SMO E522K (corresponding to human SMO E518K) in culture (PMID: 26823493). 26823493
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
SMO E518K unknown