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Gene ETV6
Variant R399H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ETV6 R399H lies within the ETS domain of the Etv6 protein (PMID: 25581430). R399H leads to decreased binding of the Etv6 ETS-domain to DNA, and decreased repression in a reporter assay (Blood Nov 2004, 104 (11) 2055) and therefore, R399H is predicted to result in a loss of Etv6 protein function.
Associated Drug Resistance

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Transcript NM_001987
gDNA chr12:g.11885969G>A
cDNA c.1196G>A
Protein p.R399H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001987 chr12:g.11885969G>A c.1196G>A p.R399H RefSeq GRCh38/hg38
XM_011520608 chr12:g.11885995_11885997delAGGinsCAT c.1195_1197delAGGinsCAT p.R399H 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 inact mut acute lymphoblastic leukemia not applicable N/A Clinical Study Risk Factor In multiple clinical studies, ETV6 inactivating germline mutations were shown to be a risk factor for the development of acute lymphocytic leukemia (PMID: 26522332, PMID: 26102509, PMID: 25807284). 25807284 26102509 26522332
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...
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
Molecular Profile Protein Effect Treatment Approaches
ETV6 R399H loss of function - predicted