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Gene ETV6
Variant V345fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ETV6 V345fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 345 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). V345fs fails to repress transcriptional activity and reduces the effect of wild-type Etv6 protein in a reporter assay (PMID: 22162831), and therefore, is predicted to lead to a loss of Etv6 protein function.
Associated Drug Resistance

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Transcript NM_001987
gDNA chr12:g.(11884467_11884468)
cDNA c.(1033_1032)
Protein p.V345fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001987 chr12:g.(11884467_11884468) c.(1033_1032) p.V345fs RefSeq GRCh38/hg38

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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 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 V345fs loss of function - predicted