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|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).|
|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.|