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Gene TET2
Variant Q317fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 Q317fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 317 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Q317fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q317 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 Q317fs

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Transcript NM_001127208.3
gDNA chr4:g.(105234890_105234891)
cDNA c.(949_948)
Protein p.Q317fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047415843.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_006714242.3 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_017008319.2 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
NM_017628.4 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_017008319.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
NM_017628.4 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.(105234890_105234891) c.(949_948) p.Q317fs RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TET2 mutant myelofibrosis not applicable N/A Guideline Diagnostic TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). detail...
TET2 mutant acute myeloid leukemia predicted - sensitive Azacitidine Phase I Actionable In a retrospective analysis, presence of a TET2 mutation correlated with higher overall response rate (ORR) in patients with myelodysplastic syndrome and acute myeloid leukemia following treatment with Vidaza (azacitidine), with an ORR of 85% (11/3) in TET2-mutated patients, compared to 47% (34/47) in patients with wild-type TET2, but did not correlate with overall survival (PMID: 21494260). 21494260
TET2 mutant acute myeloid leukemia sensitive Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment inhibited colony formation in patient-derived acute myeloid leukemia cells harboring a TET2 mutation along with FLT3-ITD and NPM1 mutation in culture (PMID: 34215619). 34215619
TET2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, including a meta-analysis, TET2 mutations were associated with shorter overall survival in patients with acute myeloid leukemia (PMID: 24524305, PMID: 25412851, PMID: 24994606). 24524305 25412851 24994606
TET2 mutant angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...