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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
A6V missense unknown ETV6 A6V does not lie within any known functional domains of the Etv6 protein (UniProt.org). A6V has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Mar 2020).
D111N missense unknown ETV6 D111N lies within the PNT domain of the Etv6 protein (UniProt.org). D111N has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Mar 2020).
D206N missense unknown ETV6 D206N lies within the linker domain of the Etv6 protein (PMID: 25581430). D206N has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Mar 2020).
D351H missense unknown ETV6 D351H lies within the ETS domain of the Etv6 protein (PMID: 25581430). D351H has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
D372N missense unknown ETV6 D372N lies within the ETS domain of the Etv6 protein (PMID: 25581430). D372N has been identified in the scientific literature (PMID: 25581430), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
D65E missense unknown ETV6 D65E lies within the PNT domain of the Etv6 protein (UniProt.org). D65E has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
E392K missense unknown ETV6 E392K lies within the ETS domain of the Etv6 protein (PMID: 25581430). E392K has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
ETV6 - ABL1 fusion gain of function ETV6-ABL1 results from the fusion of ETV6 (also referred to as TEL) and ABL1, demonstrating increased kinase activity (PMID: 9695962) and the ability to induce CML-like myeloproliferative disease in mice (PMID: 12036890) and in cell culture (PMID: 9695962).
ETV6 - ABL2 fusion gain of function ETV6-ABL2 (also known as TEL-ARG) results from the fusion of ETV6 and ABL2, demonstrating increased proliferation and increased phosphorylation of multiple cellular signaling proteins (PMID: 15005341, PMID: 25373509).
ETV6 - ACSL6 fusion unknown ETV6-ACSL6 results from the fusion of ETV6 and ACSL6 (PMID: 16572202). ETV6-ACSL6 has been identified in myeloid leukemia, polycythemia vera, and chronic eosinophilic leukemia (PMID: 11861295, PMID: 27458550, PMID: 27746819, PMID: 16572202), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - ALK fusion gain of function - predicted ETV6-ALK results from the fusion of ETV6 and ALK (PMID: 29327718), which is transforming in culture (PMID: 21572589) and therefore, is predicted to confer a gain of function. ETV6-ALK fusion has been identified in epithelioid fibrous histiocytoma (PMID: 29327718).
ETV6 - ARNT fusion unknown ETV6-ARNT results from the fusion of ETV6 and ARNT (PMID: 20804916). ETV6-ARNT has been identified in childhood T-lymphoblastic leukemia (PMID: 20804916) and acute myeloblastic leukemia (PMID: 10829078, PMID: 30209392), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2020).
ETV6 - BAZ2A fusion unknown ETV6-BAZ2A results from the fusion of ETV6 and BAZ2A (PMID: 16643428). ETV6-BAZ2A has been identified in pediatric pre-B acute lymphoblastic leukemia (PMID: 16643428), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - CDX2 fusion unknown ETV6-CDX2 results from the fusion of ETV6 and CDX2 (PMID: 9920852), which does not induce leukemia when overexpressed in animal models (PMID: 14718672). ETV6-CDX2 has been identified in acute myeloid leukemia (PMID: 9920852), but has not been fully biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - FGFR1 fusion gain of function - predicted ETV6-FGFR1 results from the fusion of ETV6 (also referred to as TEL) and FGFR1 (PMID: 21764904), and demonstrates transforming ability in cell culture (PMID: 20338520) and therefore, is predicted to confer a gain of function.
ETV6 - FGFR3 fusion gain of function ETV6-FGFR3 results from the fusion of ETV6 (also referred to as TEL) and FGFR3 (PMID: 15514005), demonstrating constitutive kinase activity and the ability to transform cells in culture (PMID: 15514005).
ETV6 - FGFR4 fusion gain of function ETV6-FGFR4 results from the fusion of ETV6 (also referred to as TEL) and FGFR4 (PMID: 24124571), and demonstrates constitutive kinase activity and the ability to transform cells in culture (PMID: 24124571).
ETV6 - FLT3 fusion gain of function ETV6-FLT3 results from the fusion of ETV6 and FLT3, demonstrating the ability to transform cells in culture (PMID: 16761019) and has constitutively activated kinase activity (PMID: 19345670).
ETV6 - FRK fusion gain of function ETV6-FRK results from the fusion of ETV6 and FRK, demonstrating constitutive Frk phosphorylation and transforming ability in culture (PMID: 15611931).
ETV6 - GOT1 fusion unknown ETV6-GOT1 results from the fusion of ETV6 and GOT1 (PMID: 16757412). ETV6-GOT1 has been identified in myelodysplastic syndrome (PMID: 16757412, PMID: 18310541), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - INO80D fusion unknown ETV6-INO80D results from the fusion of ETV6 and INO80D (PMID: 22237106). ETV6-INO80D has been identified in early T-cell precursor acute lymphoblastic leukemia (PMID: 22237106), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - ITPR2 fusion unknown ETV6-ITPR2 results from the fusion of ETV6 and ITPR2 (PMID: 20033038). ETV6-ITPR2 has been identified in breast cancer (PMID: 20033038), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - JAK1 fusion gain of function ETV6-JAK1 results from the fusion of ETV6 and JAK1, and leads to growth factor independence, constitutive kinase activity, and increased Stat5 activation and expression of Stat5 target genes (PMID: 10706877, PMID: 20138049). ETV6-JAK1 has been associated with leukemias (PMID: 10706877, PMID: 10374907).
ETV6 - JAK2 fusion gain of function ETV6-JAK2 results from the fusion of ETV6 (also referred to as TEL) and JAK2 (PMID: 9736611). ETV6-JAK2 results in growth factor independence, constitutive kinase activity and increased downstream signaling (PMID: 9736611).
ETV6 - JAK3 fusion gain of function ETV6-JAK3 results from the fusion of ETV6 and JAK3, which leads to constitutive activation of Stat1 and Stat3, increased expression of Stat5 target genes, and is transforming in cell culture (PMID: 10706877).
ETV6 - LYN fusion gain of function ETV6-LYN results from the fusion of ETV6 and LYN, demonstrating constitutive Lyn kinase activity and the ability to phosphorylate Stat5, and is transforming in cell culture (PMID: 21492125).
ETV6 - MDS2 fusion unknown ETV6-MDS2 results from the fusion of ETV6 and MDS2 (PMID: 12203785). ETV6-MDS2 has been identified in myelodysplastic syndrome (PMID: 12203785), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - MECOM fusion unknown ETV6-MECOM results from the fusion of ETV6 and MECOM (also referred to as EVI1) (PMID: 9044825). ETV6-MECOM has been identified in myeloproliferative disorders and acute myeloid leukemia (PMID: 29920189, PMID: 9044825, PMID: 28182364), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - NCOA2 fusion unknown ETV6-NCOA2 results from the fusion of ETV6 and NCOA2 (PMID: 18281529). ETV6-NCOA2 has been identified in acute leukemia (PMID: 18281529, PMID: 22373549) and T-lymphoblastic lymphoma (PMID: 28272805), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - NKAIN2 fusion unknown ETV6-NKAIN2 results from the fusion of ETV6 and NKAIN2. ETV6-NKAIN2 has not been characterized in the scientific literature and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - NTRK1 fusion gain of function - predicted ETV6-NTRK1 results in the fusion of ETV6 and NTRK1 (PMID: 26884591). ETV6-NTRK1 has not been biochemically characterized, but is sensitive to Trk inhibition (PMID: 26884591), and therefore, is predicted to result in a gain of function.
ETV6 - NTRK2 fusion gain of function - predicted ETV6-NTRK2 results in the fusion of ETV6 and NTRK2 (PMID: 26939704) resulting in cytokine-independent cell growth in culture, increased downstream signaling in vitro, and promotes tumor formation in mice (PMID: 29920189). ETV6-NTRK2 has been identified in acute myeloid leukemia (PMID: 29920189).
ETV6 - NTRK3 fusion gain of function ETV6-NTRK3 results from the fusion of ETV6 and NTRK3, which leads to ligand-independent dimerization and activation of the fusion protein, transformation in cultured cells and tumor formation in animal models (PMID: 10702799). ETV6-NTRK3 fusions are associated with secretory breast carcinoma (PMID: 17425505).
ETV6 - PDGFRA fusion gain of function - predicted ETV6-PDGFRA results from the fusion of ETV6 and PDGFRA (PMID: 17555450). ETV6-PDGFRA is responsive to Pdgfra inhibition and therefore, the fusion is predicted to result in a gain of function (PMID: 17555450).
ETV6 - PDGFRB fusion gain of function ETV6-PDGFRB results from the fusion of ETV6 and PDGFRB, demonstrating the ability to stimulate proliferation and differentiation of progenitor cells and activation of transcription factors (PMID: 22271894).
ETV6 - PER1 fusion unknown ETV6-PER1 results in the fusion of ETV6 and PER1 (PMID: 12661008). ETV6-PER1 has been identified in acute myeloid leukemia and does not result in a functional fusion protein (PMID: 12661008), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jan 2020).
ETV6 - PRDM16 fusion gain of function - predicted ETV6-PRDM16 results from the fusion of ETV6 and PRDM16 (PMID: 22050763). ETV6-PRDM16 has been identified in acute myeloid leukemia and myelodysplastic syndrome, but has not been biochemically characterized, however, has been demonstrated to result in over expression of PRDM16 (PMID: 22050763).
ETV6 - PTPRR fusion gain of function ETV6-PTPRR (also referred to as TEL-PTPRR) results from the fusion of ETV6 and PTPRR, and leads to ligand-independent cell growth and Stat3 activation in culture (PMID: 16061641). ETV6-PTPRR has been identified in acute myelogenous leukemia (PMID: 16061641).
ETV6 - RNF217-AS1 fusion unknown ETV6-RNF217-AS1 results from the fusion of ETV6 and RNF217-AS1 (also referred to as STL) (PMID: 9087565). ETV6-RNF217-AS1 has been identified in acute lymphoblastic leukemia (PMID: 9087565), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2020).
ETV6 - ROS1 fusion gain of function - predicted ETV6-ROS1 results from the fusion of ETV6 and ROS1, and leads to constitutive ROS1 activation in cultured cells (PMID: 26939704) and therefore, is predicted to confer a gain of function.
ETV6 - RUNX1 fusion gain of function ETV6-RUNX1 results from the fusion of ETV6 and RUNX1, which leads to altered transcriptional regulation resulting in preleukemic cells (PMID: 17325341) and demonstrates upregulation of EPOR, leading to increased cell survival (PMID: 21900195).
ETV6 - SYK fusion gain of function ETV6-SYK results from the fusion of ETV6 and SYK (PMID: 22373549). ETV6-SYK has been identified in acute lymphoblastic leukemia (PMID: 22373549), and results in constitutive activation of the fusion protein, and is transforming in cultured cells (PMID: 11159536).
ETV6 - TYK2 fusion gain of function - predicted ETV6-TYK2 (also reported as TEL-TYK2) results from the fusion of ETV6 and TYK2 (PMID: 10706877), which leads to constitutive Stat1/3/5 activation and is transforming in cell culture (PMID: 10706877), and therefore, is predicted to confer a gain of protein function.
fusion fusion unknown ETV6 fusion indicates a fusion of the ETV6 gene, but the fusion partner is unknown.
G375R missense unknown ETV6 G375R lies within the ETS domain of the Etv6 protein (PMID: 25581430). G375R has been identified in sequencing studies (PMID: 30487223, PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
H141Y missense unknown ETV6 H141Y lies within the linker domain of the Etv6 protein (PMID: 25581430). H141Y has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
I186V missense unknown ETV6 I186V lies within the linker domain of the Etv6 protein (PMID: 25581430). I186V has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
I406S missense unknown ETV6 I406S lies within the ETS domain of the Etv6 protein (PMID: 25581430). I406S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
I407T missense unknown ETV6 I407T lies within the ETS domain of the Etv6 protein (PMID: 25581430). I407T has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
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.
K403E missense unknown ETV6 K403E lies within the ETS domain of the Etv6 protein (PMID: 25581430). K403E has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
L117F missense unknown ETV6 L117F lies within the PNT domain of the Etv6 protein (UniProt.org). L117F has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
L201P missense unknown ETV6 L201P lies within the linker domain of the Etv6 protein (PMID: 25581430). L201P has been identified in sequencing studies (PMID: 25550361), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
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.
L79S missense unknown ETV6 L79S lies within the PNT domain of the Etv6 protein (UniProt.org). L79S has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
mutant unknown unknown ETV6 mutant indicates an unspecified mutation in the ETV6 gene.
N228S missense unknown ETV6 N228S lies within the linker domain of the Etv6 protein (PMID: 25581430). N228S has been identified in sequencing studies (PMID: 22980975, PMID: 21984974), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
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.
N382D missense unknown ETV6 N382D lies within the ETS domain of the Etv6 protein (PMID: 25581430). N382D has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
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.
P194S missense unknown ETV6 P194S lies within the linker domain of the Etv6 protein (PMID: 25581430). P194S has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
P214L missense loss of function ETV6 P214L lies within the linker domain of the Etv6 protein (PMID: 25581430). P214L results in decreased Etv6 transcriptional repression and delayed megakaryocyte maturation in cell culture (PMID: 25807284).
P214S missense unknown ETV6 P214S lies within the linker domain of the Etv6 protein (PMID: 25581430). P214S has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
P324Q missense unknown ETV6 P324Q lies within the linker domain of the Etv6 protein (PMID: 25581430). P324Q has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R127Q missense unknown ETV6 R127Q lies within the linker domain of the Etv6 protein (PMID: 25581430). R127Q has been identified in sequencing studies (PMID: 25239263), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R14Q missense unknown ETV6 R14Q does not lie within any known functional domains of the Etv6 protein (UniProt.org). R14Q has been identified in sequencing studies (PMID: 28157215), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R181C missense unknown ETV6 R181C lies within the linker domain of the Etv6 protein (PMID: 25581430). R181C has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R181L missense unknown ETV6 R181L lies within the linker domain of the Etv6 protein (PMID: 25581430). R181L has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R191W missense unknown ETV6 R191W lies within the linker domain of the Etv6 protein (PMID: 25581430). R191W has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R199Q missense unknown ETV6 R199Q lies within the linker domain of the Etv6 protein (PMID: 25581430). R199Q has been identified in sequencing studies (PMID: 26522332), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R202W missense unknown ETV6 R202W lies within the linker domain of the Etv6 protein (PMID: 25581430). R202W has been identified in sequencing studies (PMID: 25042771, PMID: 29162652), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Mar 2020).
R217T missense unknown ETV6 R217T lies within the linker domain of the Etv6 protein (PMID: 25581430). R217T has been identified in sequencing studies (PMID: 21798897, PMID: 23619168), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Mar 2020).
R259G missense unknown ETV6 R259G lies within the linker domain of the Etv6 protein (PMID: 25581430). R259G has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R259L missense unknown ETV6 R259L lies within the linker domain of the Etv6 protein (PMID: 25581430). R259L has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R259Q missense unknown ETV6 R259Q lies within the linker domain of the Etv6 protein (PMID: 25581430). R259Q has been identified in sequencing studies (PMID: 29057546, PMID: 22895193, PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R264C missense unknown ETV6 R264C lies within the linker domain of the Etv6 protein (PMID: 25581430). R264C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R309W missense unknown ETV6 R309W lies within the linker domain of the Etv6 protein (PMID: 25581430). R309W has been identified in sequencing studies (PMID: 24836576), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R369L missense unknown ETV6 R369L lies within the ETS domain of the Etv6 protein (PMID: 25581430). R369L has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R369W missense unknown ETV6 R369W lies within the ETS domain of the Etv6 protein (PMID: 25581430). R369W has been identified in sequencing studies (PMID: 22810696, PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R378* nonsense unknown ETV6 R378* results in a premature truncation of the Etv6 protein at amino acid 378 of 452 (UniProt.org). R378* has been identified in sequencing studies (PMID: 24345752), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R378P missense unknown ETV6 R378P lies within the ETS domain of the Etv6 protein (PMID: 25581430). R378P has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R386I missense unknown ETV6 R386I lies within the ETS domain of the Etv6 protein (PMID: 25581430). R386I has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R396G missense unknown ETV6 R396G lies within the ETS domain of the Etv6 protein (PMID: 25581430). R396G has been identified in sequencing studies (PMID: 27149842, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Jul 2020).
R396K missense unknown ETV6 R396K lies within the ETS domain of the Etv6 protein (PMID: 25581430). R396K has been identified in the scientific literature (PMID: 10935500), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
R399C missense loss of function ETV6 R399C lies within the ETS domain of the Etv6 protein (PMID: 25581430). R399C results in loss of Etv6 binding to DNA, inhibition of wild-type Etv6 transcriptional repression, and decreased hematopoietic stem cell proliferation in cell culture (PMID: 25581430).
R399H missense loss of function - predicted 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.
R55C missense unknown ETV6 R55C lies within the PNT domain of the Etv6 protein (UniProt.org). R55C has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
rearrange unknown unknown ETV6 rearrange indicates an unspecified rearrangement of the ETV6 gene.
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).
S165Y missense unknown ETV6 S165Y lies within the linker domain of the Etv6 protein (PMID: 25581430). S165Y has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
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).
Y346C missense unknown ETV6 Y346C lies within the ETS domain of the Etv6 protein (PMID: 25581430). Y346C has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
Y391* nonsense unknown ETV6 Y391* results in a premature truncation of the Etv6 protein at amino acid 391 of 452 (UniProt.org). Y391* has been identified in sequencing studies (PMID: 25344691, PMID: 26224873), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2020).
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).