Gene Variant Detail

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Gene TET2
Variant P1723S
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions TET2 P1723S does not lie within any known functional domains of the Tet2 protein (UniProt.org). P1723S is predicted to have no effect on Tet2 protein function as demonstrated by normal conversion levels of 5mC to 5hmC (PMID: 26284134).
Associated Drug Resistance

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Transcript NM_001127208
gDNA chr4:g.105275677C>T
cDNA c.5167C>T
Protein p.P1723S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208 chr4:g.105275677C>T c.5167C>T p.P1723S RefSeq GRCh38/hg38
XM_005263082 chr4:g.105275677C>T c.5167C>T p.P1723S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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
Molecular Profile Protein Effect Treatment Approaches
TET2 P1723S no effect - predicted