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Gene TET2
Variant D1384A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 D1384A lies within the catalytic domain of the Tet2 protein (PMID: 24315485). D1384A results in an enzymatically dead protein in conjunction with H1382Y (PMID: 23222540) and the conserved position in mouse Tet2 is unable to convert 5mC to 5hmC (PMID: 21057493), and therefore, is predicted to lead to a loss of Tet2 protein function.
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 D1384A

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Transcript NM_001127208.3
gDNA chr4:g.105269716A>C
cDNA c.4151A>C
Protein p.D1384A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
XM_005263082 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105269716A>C c.4151A>C p.D1384A RefSeq GRCh38/hg38

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  • 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.
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries