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| Gene | IDH1 |
| Variant | V276M |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH1 V276M does not lie within any known functional domains of the Idh1 protein (UniProt.org). V276M has been predicted to destabilize Idh1 by computational modeling (PMID: 36188571), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH1 mutant IDH1 V276M |
| Transcript | NM_005896.4 |
| gDNA | chr2:g.208242018C>T |
| cDNA | c.826G>A |
| Protein | p.V276M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001282387.1 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_001282386 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_005896.3 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_005896 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_001282387 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| NM_005896.4 | chr2:g.208242018C>T | c.826G>A | p.V276M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| IDH1 V276M | unknown |