Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TET2 |
Variant | L360W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TET2 L360W does not lie within any known functional domains of the Tet2 protein (UniProt.org). L360W has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 L360W |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105235021T>G |
cDNA | c.1079T>G |
Protein | p.L360W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_017628 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_006714242.4 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_006714242.3 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_047415842.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_047415840.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_047415843.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_017008319 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_017008319.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_006714242 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_047415839.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_047415841.1 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
XM_017008319.2 | chr4:g.105235021T>G | c.1079T>G | p.L360W | RefSeq | GRCh38/hg38 |
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 | angioimmunoblastic T-cell lymphoma | not applicable | N/A | Guideline | Diagnostic | TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (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 | 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 | 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 |