Gene Variant Detail

Contact

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 S1039L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TET2 S1039L does not lie within any known functional domains of the Tet2 protein (UniProt.org). S1039L has been identified in sequencing studies (PMID: 26414667, PMID: 35279121), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 S1039L

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_001127208.3
gDNA chr4:g.105237058C>T
cDNA c.3116C>T
Protein p.S1039L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008319 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_017008319.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_006714242.3 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_005263082 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
NM_017628 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_017008319.2 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_006714242 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_047415843.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38
NM_001127208 chr4:g.105237058C>T c.3116C>T p.S1039L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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...