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| Gene | TET2 |
| Variant | E1207K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | TET2 E1207K lies within the catalytic domain of the Tet2 protein (PMID: 24315485). E1207K has been identified in sequencing studies (PMID: 30279227, PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
TET2 mutant TET2 E1207K |
| Transcript | NM_001127208.3 |
| gDNA | chr4:g.105243594G>A |
| cDNA | c.3619G>A |
| Protein | p.E1207K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005263082.3 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| XM_024454102.2 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| XM_024454102.1 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| XM_024454103.2 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| XM_024454103.1 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| XM_005263082.4 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| NM_001127208.3 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| NM_001127208.2 | chr4:g.105243594G>A | c.3619G>A | p.E1207K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|