Gene Detail

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Gene Symbol ETV6
Synonyms TEL | TEL/ABL | THC5
Gene Description ETV6, ets variant 6, is a member of the ETS family of transcription factors, which functions as a transcriptional repressor and is involved in hematopoietic differentiation (PMID: 16828711). Fusions of ETV6 with various partners are frequently associated with hematological cancers (PMID: 22578774) and ETV6 mutations have been identified in acute lymphoblastic leukemia (PMID: 22162831) and acute myeloid leukemia (PMID: 18305557).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
fusion fusion unknown ETV6 fusion indicates a fusion of the ETV6 gene, but the fusion partner is unknown.
inact mut unknown loss of function ETV6 inact mut indicates that this variant results in a loss of function of the Etv6 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown ETV6 mutant indicates an unspecified mutation in the ETV6 gene.
rearrange unknown unknown ETV6 rearrange indicates an unspecified rearrangement of the ETV6 gene.