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Gene | TET2 |
Variant | H1881R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 H1881R lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1881R (corresponding to H1802R in mouse) results in decreased enzymatic activity in culture (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 H1881R |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105276152A>G |
cDNA | c.5642A>G |
Protein | p.H1881R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024454103.2 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105276152A>G | c.5642A>G | p.H1881R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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