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| Gene | IDH1 |
| Variant | G123E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH1 G123E lies within the active site of the Idh1 protein (PMID: 20972461). G123E has been identified in sequencing studies (PMID: 30113684, PMID: 20567020), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH1 mutant IDH1 G123E |
| Transcript | NM_005896.4 |
| gDNA | chr2:g.208248415C>T |
| cDNA | c.368G>A |
| Protein | p.G123E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005896 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_005896.4 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_005896.3 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_001282387 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_001282386 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208248415C>T | c.368G>A | p.G123E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| IDH1 G123E | unknown |