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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Molecular Profile Protein Effect Treatment Approaches
ETV6 A6V unknown
ETV6 D111N unknown
ETV6 D206N unknown
ETV6 D351H unknown
ETV6 D372N unknown
ETV6 D65E unknown
ETV6 E392K unknown
ETV6 - ABL1 gain of function
ETV6 - ABL2 gain of function
ETV6 - ACSL6 unknown
ETV6 - ALK gain of function - predicted ALK Inhibitor
ETV6 - ARNT unknown
ETV6 - BAZ2A unknown
ETV6 - CDX2 unknown
ETV6 - FGFR1 gain of function - predicted
ETV6 - FGFR3 gain of function
ETV6 - FGFR4 gain of function
ETV6 - FLT3 gain of function
ETV6 - FRK gain of function
ETV6 - GOT1 unknown
ETV6 - INO80D unknown
ETV6 - ITPR2 unknown
ETV6 - JAK1 gain of function
ETV6 - JAK2 JAK2 N909K
ETV6 - JAK2 JAK2 R975G
ETV6 - JAK2 JAK2 V881A
ETV6 - JAK2 JAK2 G831R
ETV6 - JAK2 JAK2 E864K
ETV6 - JAK2 JAK2 G935R
ETV6 - JAK2 JAK2 M929I
ETV6 - JAK2 JAK2 P1057S
ETV6 - JAK2 JAK2 R1127K
ETV6 - JAK2 JAK2 Y918H
ETV6 - JAK2 gain of function
ETV6 - JAK3 gain of function
ETV6 - LYN gain of function
ETV6 - MDS2 unknown
ETV6 - MECOM unknown
ETV6 - NCOA2 unknown
ETV6 - NKAIN2 unknown
ETV6 - NTRK1 gain of function - predicted Larotrectinib
ETV6 - NTRK2 gain of function - predicted Trk Receptor Inhibitor (Pan) Larotrectinib
ETV6 - NTRK3 gain of function IGF-1R Inhibitor Trk Receptor Inhibitor (Pan) Crizotinib Larotrectinib
ETV6 - NTRK3 MAP2K1 P124S
ETV6 - PDGFRA gain of function - predicted
ETV6 - PDGFRB gain of function
ETV6 - PER1 unknown
ETV6 - PRDM16 gain of function - predicted
ETV6 - PTPRR gain of function
ETV6 - RNF217-AS1 unknown
ETV6 - ROS1 gain of function - predicted ROS1 Inhibitor
ETV6 - RUNX1 gain of function
ETV6 - SYK gain of function
ETV6 - TYK2 gain of function - predicted
ETV6 fusion unknown
ETV6 G375R unknown
ETV6 H141Y unknown
ETV6 I186V unknown
ETV6 I406S unknown
ETV6 I407T unknown
ETV6 inact mut loss of function
ETV6 K403E unknown
ETV6 L117F unknown
ETV6 L201P unknown
ETV6 L341fs loss of function - predicted
ETV6 L79S unknown
ETV6 mutant unknown
ETV6 N228S unknown
ETV6 N356fs loss of function - predicted
ETV6 N382D unknown
ETV6 N385fs loss of function - predicted
ETV6 P194S unknown
ETV6 P214L loss of function
ETV6 P214S unknown
ETV6 P324Q unknown
ETV6 R127Q unknown
ETV6 R14Q unknown
ETV6 R181C unknown
ETV6 R181L unknown
ETV6 R191W unknown
ETV6 R199Q unknown
ETV6 R202W unknown
ETV6 R217T unknown
ETV6 R259G unknown
ETV6 R259L unknown
ETV6 R259Q unknown
ETV6 R264C unknown
ETV6 R309W unknown
ETV6 R369L unknown
ETV6 R369W unknown
ETV6 R378* unknown
ETV6 R378P unknown
ETV6 R386I unknown
ETV6 R396G unknown
ETV6 R396K unknown
ETV6 R399C loss of function
ETV6 R399H loss of function - predicted
ETV6 R55C unknown
ETV6 rearrange unknown
ETV6 S105fs loss of function - predicted
ETV6 S106fs loss of function - predicted
ETV6 S165Y unknown
ETV6 S203fs loss of function - predicted
ETV6 V345fs loss of function - predicted
ETV6 Y103fs loss of function - predicted
ETV6 Y104fs loss of function - predicted
ETV6 Y346C unknown
ETV6 Y391* unknown
ETV6 Y391fs unknown