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| Gene | IDH1 |
| Variant | D375Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH1 D375Y does not lie within any known functional domains of the Idh1 protein (UniProt.org). D375Y has been identified in the scientific literature (PMID: 32313423), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH1 mutant IDH1 D375Y |
| Transcript | NM_005896.4 |
| gDNA | chr2:g.208239102C>A |
| cDNA | c.1123G>T |
| Protein | p.D375Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005896.3 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_001282387 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_005896 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_001282386 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_005896.4 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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