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 V1199E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TET2 V1199E lies within the catalytic domain of the Tet2 protein (PMID: 24315485). V1199E has been demonstrated to confer RAF inhibitor resistance in the context of BRAF V600E (PMID: 34433654), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance Y
Category Variants Paths

TET2 mutant TET2 V1199E

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.105243571T>A
cDNA c.3596T>A
Protein p.V1199E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208.3 chr4:g.105243571T>A c.3596T>A p.V1199E RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105243571T>A c.3596T>A p.V1199E RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105243571T>A c.3596T>A p.V1199E RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105243571T>A c.3596T>A p.V1199E RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105243571T>A c.3596T>A p.V1199E RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105243571T>A c.3596T>A p.V1199E RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105243571T>A c.3596T>A p.V1199E RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105243571T>A c.3596T>A p.V1199E 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 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 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 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