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Gene ETV6
Variant R14Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ETV6 R14Q does not lie within any known functional domains of the Etv6 protein (UniProt.org). R14Q has been identified in sequencing studies (PMID: 28157215), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
Associated Drug Resistance

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Transcript NM_001987
gDNA chr12:g.11752457G>A
cDNA c.41G>A
Protein p.R14Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017018990 chr12:g.11752457G>A c.41G>A p.R14Q RefSeq GRCh38/hg38
NM_001987 chr12:g.11752457G>A c.41G>A p.R14Q RefSeq GRCh38/hg38

Filtering

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  • 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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, ETV6 mutations were associated with a shorter overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 21877899, PMID: 26769228). 21877899 26769228 21714648
ETV6 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ETV6 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
ETV6 R14Q unknown