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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.
L341fs frameshift loss of function - predicted ETV6 L341fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 341of 452, likely resulting in premature truncation of the functional protein (UniProt.org). L341fs has not been characterized however, due to the effects of other truncation mutations downstream of 341 (PMID: 22162831), L341fs is predicted to lead to a loss of Etv6 protein function.
N356fs frameshift loss of function - predicted ETV6 N356fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 356 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). N356fs fails to repress transcriptional activity in a reporter assay (PMID: 22162831), and therefore, is predicted to lead to a loss of Etv6 protein function.
N385fs frameshift loss of function - predicted ETV6 N385fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 385 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). N385fs results in decreased transcriptional regulation of known target genes and impaired protein localization to the nucleus (PMID: 26102509), and therefore, is predicted to lead to a loss of Etv6 protein function.
S105fs frameshift loss of function - predicted ETV6 S105fs (corresponds to S106 in the canonical isoform) results in a change in the amino acid sequence of the Etv6 protein beginning at aa 105 of 451, likely resulting in premature truncation of the functional protein (UniProt.org). S105fs 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.
S106fs frameshift loss of function - predicted ETV6 S106fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 106 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). S106fs is predicted to confer a loss of function on Etv6 as the corresponding variant in an alternate isoform (S105fs) fails to repress transcriptional activity in a reporter assay (PMID: 22162831).
S203fs frameshift loss of function - predicted ETV6 S203fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 203 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). S203fs has not been characterized however, due to the effects of other truncation mutations downstream of 203 (PMID: 22162831), S203fs is predicted to lead to a loss of Etv6 protein function.
V345fs frameshift loss of function - predicted 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.
Y103fs frameshift loss of function - predicted ETV6 Y103fs (corresponds to Y104 in the canonical isoform) results in a change in the amino acid sequence of the Etv6 protein beginning at aa 103 of 451, likely resulting in premature truncation of the functional protein (UniProt.org). Y103fs fails to repress transcriptional activity in a reporter assay (PMID: 22162831), and therefore, is predicted to lead to a loss of Etv6 protein function.
Y104fs frameshift loss of function - predicted ETV6 Y104fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 104 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Y104fs is predicted to confer a loss of function on Etv6 as the corresponding variant in an alternate isoform (Y103fs) fails to repress transcriptional activity in a reporter assay (PMID: 22162831).
Y391fs frameshift unknown ETV6 Y391fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 391 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Y391fs has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2020).