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Gene Symbol TET2
Synonyms KIAA1546 | MDS
Gene Description TET2, methylcytosine dioxygenase TET2, is a member of the ten-eleven-translocation family of genes that plays a role in DNA methylation and is involved in hematopoesis (PMID: 26099018, PMID: 25510268, PMID: 27848178). TET2 has been identified as a tumor suppressor in hematological malignancies, and mutations in TET2 are common in hematological cancers including myelodysplastic syndrome, chronic myelomoncytic leukemia, and atypical CML (PMID: 26099018, PMID: 22240200, PMID: 30138727) and epigenetic dysregulation has been observed in glioblastoma (PMID: 29899831).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function TET2 inact mut indicates that this variant results in a loss of Tet2 protein function. However, the specific amino acid change has not been identified.
mutant unknown unknown TET2 mutant indicates an unspecified mutation in the TET2 gene.
D1143fs frameshift loss of function - predicted TET2 D1143fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 1143 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-interacting region and substrate binding region (UniProt.org), D1143fs is predicted to lead to a loss of Tet2 function.
I812fs frameshift loss of function - predicted TET2 I812fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 812 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the catalytic domain (PMID: 25132561), I812fs is predicted to lead to a loss of Tet2 protein function.
K1171fs frameshift loss of function - predicted TET2 K1171fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 1171 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-interacting region and substrate binding region (UniProt.org), K1171fs is predicted to lead to a loss of Tet2 function.
K67fs frameshift loss of function - predicted TET2 K67fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 67 of 2002 (UniProt.org). Due to the loss of the catalytic domain (PMID: 25132561), K67fs is predicted to lead to a loss of Tet2 protein function.