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| Gene | IDH1 |
| Variant | R132V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH1 R132V lies within the active site of the Idh1 protein (PMID: 19228619). R132V has been identified in the scientific literature (PMID: 28330869, PMID: 26189213, PMID: 18985363), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH1 mutant IDH1 R132X IDH1 R132V |
| Transcript | NM_005896.4 |
| gDNA | chr2:g.208248388_208248389delCGinsGT |
| cDNA | c.394_395delCGinsGT |
| Protein | p.R132V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001282386 | chr2:g.208248388_208248389delCGinsAC | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208248388_208248389delCGinsGT | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208248388_208248389delCGinsGT | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_005896.3 | chr2:g.208248388_208248389delCGinsGT | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208248388_208248389delCGinsGT | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208248388_208248389delCGinsGT | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_001282387 | chr2:g.208248388_208248389delCGinsAC | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_005896.4 | chr2:g.208248388_208248389delCGinsGT | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| NM_005896 | chr2:g.208248388_208248389delCGinsAC | c.394_395delCGinsGT | p.R132V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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